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Gene: Pabpn1 MGI:1859158

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
poly(A) binding protein, nuclear 1
Synonyms:
poly(A) binding protein II,  Pabp3

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Pabpn1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Pabpn1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Oculopharyngeal Muscular Dystrophy 1
Limb muscle weakness, Facial palsy OMIM:164300

The table below shows human diseases predicted to be associated to Pabpn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Spinal Muscular Atrophy, Scapuloperoneal
Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy OMIM:271220
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Miyoshi Myopathy
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... ORPHA:45448
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ... ORPHA:219
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... OMIM:600794
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal amyotrophy, Fiber type grouping OMIM:614369
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... OMIM:601472
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... OMIM:608423
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Lethal Congenital Contracture Syndrome 4
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis OMIM:614915
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Spastic Paraplegia 77, Autosomal Recessive
Upper limb muscle weakness, Lower limb amyotrophy, Lower limb muscle weakness OMIM:617046
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Quadriceps muscle weakness, Upper limb a... ORPHA:482601
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness OMIM:614881
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Hypertrophia Musculorum Vera
Calf muscle hypertrophy OMIM:145800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Distal lower limb muscle weakness OMIM:615025
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Calf muscle hypertrophy, Distal amyotrophy OMIM:618135
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality
Proximal spinal muscular atrophy OMIM:271110
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... OMIM:181400
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Neuronopathy, Distal Hereditary Motor, X-Linked
Distal amyotrophy, Spinal muscular atrophy OMIM:300489
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita OMIM:611369
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Distal amyotrophy, Spinal muscular atrophy, Proximal amyotrophy OMIM:182980
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Skeletal muscle atrophy, Tremor, Spinal muscular atrophy OMIM:615048
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Distal amyotrophy, Foot dorsiflexor weakness OMIM:618036
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... ORPHA:86812
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle atrophy, Distal amyotrophy, Foot dorsiflexor weakness, Hand muscle weakness OMIM:616280
Muscular Dystrophy, Congenital, 1B
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... OMIM:604801
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... OMIM:613204
Spastic Paraplegia 38, Autosomal Dominant
Thenar muscle atrophy, Thenar muscle weakness, Distal amyotrophy, First dorsal interossei muscle ... OMIM:612335
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Scapular winging, Paraspinal muscle hypertrophy, Knee flexion contracture, Conge... OMIM:602484
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy OMIM:612539
Myopathy, Distal, Infantile-Onset
Calf muscle hypertrophy, Foot dorsiflexor weakness OMIM:160300
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... OMIM:619042
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Skeletal muscle atrophy, Flexion contracture OMIM:611105
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Dystonia 7, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Skeletal muscle hypertrophy, Blepharo... OMIM:602124
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... OMIM:617066
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Hand muscle weakness, Distal amyotrophy, Weakness of facial musculature, Low... OMIM:607641
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture... ORPHA:280333
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1
Upper limb muscle weakness, Distal amyotrophy OMIM:182960
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal amyotrophy OMIM:616625
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy ORPHA:357043
Spinal Muscular Atrophy With Mental Retardation
Spinal muscular atrophy OMIM:271109
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy OMIM:208100
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Distal amyotrophy OMIM:158580
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy OMIM:616282
Mitochondrial Myopathy With Diabetes
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... OMIM:500002
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Distal amyotrophy, Shoulder girdl... OMIM:253400
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Dyst... ORPHA:309169
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Calf muscle hypertrophy OMIM:606072
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Distal amyotrophy, Distal lower limb muscle weakness, Interosseus muscle atrophy, Spinal muscular... OMIM:607088
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Weak grip, Distal amyotrophy, Distal upper limb amyotrophy, Wrist d... OMIM:619519
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy ORPHA:401805
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Centrally nucleated skeletal muscle fibers, Dystonia, Increased variability in mu... ORPHA:401768
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy OMIM:183020
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Knee flexion contracture ORPHA:401785
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... OMIM:158810
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... OMIM:255160
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... OMIM:602771
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... OMIM:619477
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613158
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Upper limb muscle weakness, Lower limb amyotrophy, Claw hand deformity, Lower limb muscle weakness OMIM:618511
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Spastic Paraplegia 31, Autosomal Dominant
Skeletal muscle atrophy, Distal amyotrophy, Lower limb muscle weakness OMIM:610250
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... OMIM:618484
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Tremor, Increased variability in muscle fiber diamet... OMIM:619473
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Increased intramuscula... ORPHA:276435
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor OMIM:253550
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... OMIM:616052
Spastic Paraplegia 57, Autosomal Recessive
Hand muscle atrophy, Lower limb amyotrophy OMIM:615658
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... ORPHA:596
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Spastic Paraplegia 43, Autosomal Recessive
Distal amyotrophy, Ankle flexion contracture, Knee flexion contracture OMIM:615043
Distal Hereditary Motor Neuropathy Type 5
Thenar muscle atrophy, Thenar muscle weakness, Upper limb muscle weakness, Distal amyotrophy, Fir... ORPHA:139536
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ... OMIM:611588
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Lower limb muscle weakness, Spinal muscular atrophy, Weakness of the intrinsic hand muscles, Lowe... OMIM:615575
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... OMIM:605355
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy OMIM:615681
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Spinocerebellar Ataxia 43
Tremor, Distal amyotrophy OMIM:617018
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature OMIM:617069
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var... OMIM:619790
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy OMIM:235000
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... OMIM:608840
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Foot dorsiflex... OMIM:613287
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Generalized amyotrophy, Intention tremor ORPHA:2589
Dysequilibrium Syndrome
Skeletal muscle atrophy ORPHA:1766
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy OMIM:615686
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:255200
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... ORPHA:486815
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness OMIM:607678
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi... OMIM:609285
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w... OMIM:619216
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Spinal Muscular Atrophy, Ryukyuan Type
Spinal muscular atrophy, Proximal amyotrophy OMIM:271200
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Distal amyotrophy, Foot dorsiflexor weakness, Proximal amyotrophy OMIM:616040
Miyoshi Muscular Dystrophy 3
Quadriceps muscle atrophy, Quadriceps muscle weakness, Calf muscle hypertrophy, Muscular dystroph... OMIM:613319
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Congenital Muscular Dystrophy With Intellectual Disability
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... ORPHA:370968
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... OMIM:612937
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness OMIM:302801
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... ORPHA:98902
Congenital Myopathy 4A, Autosomal Dominant
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... OMIM:255310
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy OMIM:605589
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter OMIM:616471
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Distal amyotrophy, Claw hand deformity, Spinal muscular atrophy, Foot dorsiflexor weakness OMIM:605726
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Joint contracture, Lower limb muscle weakness OMIM:611225
Autosomal Dominant Spastic Paraplegia Type 4
Distal amyotrophy, Lower limb muscle weakness, Leg muscle stiffness ORPHA:100985
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... OMIM:253700
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ... OMIM:617258
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Skeletal muscle atrophy ORPHA:101082
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Gemignani Syndrome
Skeletal muscle atrophy ORPHA:2074
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Ankle fle... OMIM:616668
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300718
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy, Dystonia OMIM:618244
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Quadriceps muscle atrophy, Calf muscle hypertrophy, Shoulder girdle muscle weakness... OMIM:611307
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Upper limb muscle weakness, Distal amyotrophy OMIM:607677
Myopathy, Centronuclear, 5
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers OMIM:615959
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger ORPHA:3294
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... OMIM:300559
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci... ORPHA:169186
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Distal amyotrophy, Foot dorsiflexor weakness OMIM:607731
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Proxim... ORPHA:101077
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb muscle weakness ORPHA:488594
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Dystonia,... OMIM:167320
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy ORPHA:1216
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy OMIM:608673
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy, Triceps weakne... OMIM:619574
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Skeletal muscle hypertrophy, Macroglossia, Myopathy ORPHA:2349
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Tremor ORPHA:99014
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... ORPHA:169189
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... OMIM:618138
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleated skeletal muscle ... OMIM:619518
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Shoulder girdle muscle weakness... ORPHA:34515
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Postural tremor, Hand muscle weakness, Abnormality of the foot musculature, ... ORPHA:100998
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Neck joint contracture, Facial palsy OMIM:255600
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... OMIM:608340
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... OMIM:160500
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Upper limb muscle weakness, Distal amyotrophy, Hand muscle weakness OMIM:608323
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... OMIM:610099
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... OMIM:606070
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myopath... OMIM:248800
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur... OMIM:620389
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Proximal a... ORPHA:206559
Spinocerebellar Ataxia 18
Tremor, Skeletal muscle atrophy, Limb muscle weakness OMIM:607458
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets, Dystonia OMIM:619065
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular to... OMIM:616827
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Distal amyotrophy OMIM:619099
Autosomal Recessive Spastic Paraplegia Type 67
Generalized amyotrophy, Limb tremor ORPHA:401820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Calf muscle hypertrophy, Scapular winging, Muscular dystrophy, Proximal amyotrophy OMIM:601287
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy OMIM:615683
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... OMIM:619542
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Type 1 muscle fiber predominance, Dystonia OMIM:618276
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617070
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Siddiqi Syndrome
Flexion contracture, Lower limb amyotrophy, Limb dystonia OMIM:618635
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... OMIM:256030
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Spastic Paraplegia 70, Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture OMIM:620323
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Athetosis, Ragged-red muscle fibers, Dystonia OMIM:615159
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... OMIM:620265
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... ORPHA:267
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... ORPHA:171442
Brody Disease
Skeletal muscle hypertrophy, Flexion contracture OMIM:601003
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy OMIM:613402
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Distal amyotrophy ORPHA:639
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat... ORPHA:399086
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... OMIM:300580
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Facial palsy, Flexion contracture, Distal amyotrophy, Nemaline bodies, Lower... OMIM:607684
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... ORPHA:75840
Spastic Paraplegia With Neuropathy And Poikiloderma
Distal amyotrophy OMIM:182815
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Upper limb muscle weakness, Distal amyotrophy OMIM:607791
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Craniofacial dystonia, Plantar flexion contracture, Arthrogryposis-like ... OMIM:620011
Dpm3-Cdg
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness ORPHA:263494
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Scapuloperoneal amyotrophy, Distal amyotrophy, Joint contracture of the hand, Spinal muscular atr... OMIM:611067
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy OMIM:205250
Paramyotonia Congenita
Skeletal muscle hypertrophy OMIM:168300
Myotonia With Skeletal Abnormalities And Mental Retardation
Skeletal muscle hypertrophy, Firm muscles OMIM:255710
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... OMIM:603511
Myotonia Congenita, Autosomal Recessive
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities OMIM:255700
Spastic Paraplegia 45, Autosomal Recessive
Skeletal muscle atrophy, Flexion contracture OMIM:613162
Nemaline Myopathy 10
Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,... OMIM:616165
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal amyotrophy OMIM:253300
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle... OMIM:158900
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... ORPHA:370980
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... ORPHA:399096
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... OMIM:500009
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... OMIM:620351
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Elbow contracture, Scapuloperoneal amyotrophy, Achilles tendon contracture, Hams... OMIM:613205
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy,... OMIM:613156
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Joint contracture, Spinal muscular atrophy OMIM:616081
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Choreoathetosis, Distal amy... OMIM:617519
Spastic Paraplegia 17, Autosomal Dominant
Postural tremor, Thenar muscle atrophy, Thenar muscle weakness, Distal amyotrophy, First dorsal i... OMIM:270685
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy OMIM:613723
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... OMIM:159950
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Foot dorsiflexor weakness OMIM:137200
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Skeletal muscle atrophy ORPHA:101078
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscle fibers OMIM:615368
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Upper limb muscle weakness, Distal amyotrophy OMIM:605253
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy, Skeletal muscle atrophy OMIM:608390
Neuropathy, Congenital Hypomyelinating, 2
Skeletal muscle atrophy, Distal amyotrophy, Facial diplegia OMIM:618184
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy OMIM:205200
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy ORPHA:868
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal amyotrophy, Limb muscle weakness, Facial palsy, Foot dorsiflexor weakness OMIM:118210
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... ORPHA:171445
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy OMIM:612577
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy... ORPHA:2596
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Lower-limb joint contracture OMIM:613710
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... OMIM:614399
Roussy-Lévy Syndrome
Skeletal muscle atrophy, Postural tremor, Intrinsic hand muscle atrophy, Distal amyotrophy, Lower... ORPHA:3115
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Autosomal Dominant Spastic Paraplegia Type 6
Skeletal muscle atrophy, Postural tremor ORPHA:100988
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Charcot-Marie-Tooth Disease And Deafness
Thenar muscle atrophy, Tremor, Thenar muscle weakness, Distal amyotrophy, Limb muscle weakness, F... OMIM:118300
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Distal amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness OMIM:617207
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... ORPHA:119
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs ORPHA:565899
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop... ORPHA:97244
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting OMIM:609452
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... OMIM:620249
Acetazolamide-Responsive Myotonia
Skeletal muscle hypertrophy ORPHA:99736
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... OMIM:253600
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy ORPHA:247604
Myotonia Congenita, Autosomal Dominant
Skeletal muscle hypertrophy OMIM:160800
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy OMIM:613877
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171433
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Limb muscle weakness OMIM:620378
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Tremor, Skeletal muscle atrophy, Oculogyric crisis, Dystonia ORPHA:330050
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy OMIM:254950
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... ORPHA:59135
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Toe extensor amyotrophy, Pelvic girdle muscle atrophy, Hand muscle weakness,... ORPHA:98856
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Facial diplegia, Distal arthrogryposis, Knee flexion contracture OMIM:616286
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Dystonia, Weakness of facial musculature OMIM:618416
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... OMIM:608931
Stiff Person Spectrum Disorder
Exaggerated startle response, Paraspinal muscle hypertrophy ORPHA:3198
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... OMIM:310300
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Elbow flexion contracture, Calf muscle hypertrophy, Absent muscle dys... ORPHA:206546
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy OMIM:611895
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy ORPHA:31
Central Core Disease
Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea... ORPHA:597
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Distal amyotrophy, Postural tremor, Proximal amyotrophy OMIM:608627
Striatonigral Degeneration, Infantile, Mitochondrial
Lingual dystonia, Paroxysmal choreoathetosis, Ragged-red muscle fibers OMIM:500003
Myotonia Permanens
Skeletal muscle hypertrophy, Generalized muscle hypertrophy ORPHA:99735
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Facial palsy, Elbow contracture, Achilles tendon contracture, Proximal a... OMIM:606612
Charcot-Marie-Tooth Disease Type 1A
Calf muscle hypertrophy, Skeletal muscle atrophy ORPHA:101081
Amyotrophic Dystonic Paraplegia
Skeletal muscle atrophy, Dystonia OMIM:105300
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness OMIM:618387
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Distal amyotrophy, Foot dorsiflexor weakness, Thenar muscle atrophy OMIM:606483
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy ORPHA:99944
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
Developmental And Epileptic Encephalopathy 86
Generalized amyotrophy, Dystonia OMIM:618910
Leber Optic Atrophy And Dystonia
Skeletal muscle atrophy, Athetosis, Dystonia OMIM:500001
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Charcot-Marie-Tooth Disease, Type 4B1
Distal amyotrophy, Facial palsy OMIM:601382
Roussy-Levy Hereditary Areflexic Dystasia
Distal amyotrophy, Upper limb postural tremor, Action tremor OMIM:180800
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Tremor, Myopathy, Increased variability in muscle fiber dia... ORPHA:397744
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Upper limb amyotrophy, Knee flexi... ORPHA:496689
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... OMIM:620285
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Distal amyotrophy OMIM:607734
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Dystonia OMIM:616684
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Athetosis OMIM:617235
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Intrinsic hand muscle atrophy, Upper limb amyotrophy, Amyotrophy of... ORPHA:90103
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... ORPHA:2926
Spastic Paraplegia 2, X-Linked
Skeletal muscle atrophy, Flexion contracture, Lower limb muscle weakness OMIM:312920
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Generalized dystonia, Dystonia OMIM:618239
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness OMIM:605588
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy OMIM:183050
Myasthenic Syndrome, Congenital, 10
Weakness of facial musculature, Distal amyotrophy, Proximal amyotrophy OMIM:254300
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Skeletal muscle atrophy, Dystonia OMIM:614932
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... OMIM:254090
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy OMIM:608030
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter OMIM:613752
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Lower limb musc... ORPHA:209335
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus... OMIM:613327
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture ORPHA:98896
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy OMIM:614808
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Torticollis, Writer's cramp, Neck muscle hypertrophy, Limb tremor, Focal dystonia... ORPHA:420492
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph... ORPHA:370959
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy OMIM:615511
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Fatty replacement of skeletal muscle, Distal amyotrophy, Distal lower limb muscle weakness, Hand ... OMIM:618279
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... OMIM:617228
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... OMIM:609560
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy ORPHA:3239
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness OMIM:302802
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy ORPHA:2400
Cap Myopathy
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... ORPHA:171881
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Shox-Related Short Stature
Skeletal muscle hypertrophy ORPHA:314795
X-Linked Intellectual Disability, Miles-Carpenter Type
Skeletal muscle atrophy ORPHA:85283
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy OMIM:617892
Fried Syndrome
Skeletal muscle atrophy ORPHA:85335
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Joint contracture, Elbow flexion contracture, Muscular dystrophy, Generalized amyotrophy OMIM:616516
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers OMIM:618242
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... ORPHA:98913
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... ORPHA:353327
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... OMIM:258450
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter OMIM:614096
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:619334
Spinocerebellar Ataxia 28
Lower limb hypertonia, Ragged-red muscle fibers, Dystonia OMIM:610246
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Diastasis recti, Skeletal muscle hypertrophy, Distal lower limb muscle wea... ORPHA:3101
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... ORPHA:329478
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly OMIM:618393
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Dystonia ORPHA:98757
Oxoglutarate Dehydrogenase Deficiency
Generalized amyotrophy, Dystonia OMIM:203740
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Scleroderma, Familial Progressive
Calcinosis, Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy OMIM:618251
Hyperkalemic Periodic Paralysis
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Myopathy ORPHA:682
Spastic Paraplegia 76, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:616907
Uruguay Faciocardiomusculoskeletal Syndrome
Left ventricular hypertrophy, Skeletal muscle hypertrophy, Camptodactyly, Camptodactyly of toe, J... OMIM:300280
Charcot-Marie-Tooth Disease, Type 4B3
Upper limb muscle weakness, Skeletal muscle atrophy, Distal lower limb muscle weakness, Lower lim... OMIM:615284
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy ORPHA:1188
Charcot-Marie-Tooth Disease Type 4D
Postural tremor, Distal lower limb muscle weakness, Lower limb amyotrophy, Upper limb amyotrophy ORPHA:99950
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Calf muscle hypertrophy, Limb muscle weakness OMIM:313200
Neurogenic Arthrogryposis Multiplex Congenita
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... ORPHA:1143
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... ORPHA:79083
Satoyoshi Syndrome
Skeletal muscle hypertrophy OMIM:600705
Spastic Ataxia 2, Autosomal Recessive
Tremor, Distal amyotrophy, Head titubation, Torticollis OMIM:611302
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Skeletal muscle atrophy OMIM:616719
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Opisthotonus OMIM:616896
Cidec-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Calf muscle hypertrophy ORPHA:435651
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... OMIM:620278
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Skeletal muscle atrophy, Distal amyotrophy, Limb muscle weakness, Intrinsic hand muscle atrophy OMIM:614895
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Quadriceps muscle weaknes... OMIM:255800
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Dystonia OMIM:230650
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ... ORPHA:101097
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Myopathy ORPHA:300179
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy, Head tremor, Titubation ORPHA:98771
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Foot joint contracture, Dystonia ORPHA:457205
Bethlem Myopathy
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... ORPHA:610
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Flexion contracture, Myopathy ORPHA:157973
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Facial diplegia, Arthrogryposis multiplex congenita, Dystonia OMIM:611890
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Axial dystonia, Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Ataxia-Telangiectasia
Tremor, Skeletal muscle atrophy, Abnormality of chromosome stability ORPHA:100
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Progressive flexion contractures ORPHA:2028
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Dystonia ORPHA:101006
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Muscle ... ORPHA:254886
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Weakness of facial musculature, Distal amyotrophy, Foot dorsiflexor weakness OMIM:618811
Deafness, Congenital, With Vitiligo And Achalasia
Skeletal muscle atrophy OMIM:221350
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General... ORPHA:324604
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... ORPHA:206569
Amyotrophy, Monomelic
Upper limb muscle weakness, Interosseus muscle atrophy OMIM:602440
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Skeletal muscle atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Skeletal muscle atrophy OMIM:616437
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Skeletal muscle atrophy, Head titubation, Oromandibular dystonia, Upper-limb join... ORPHA:300605
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy OMIM:612069
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy OMIM:105400
Neuropathy, Congenital, With Arthrogryposis Multiplex
Arthrogryposis multiplex congenita, Distal amyotrophy OMIM:162370
Intellectual Disability-Developmental Delay-Contractures Syndrome
Distal amyotrophy, Congenital foot contractures ORPHA:3454
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98855
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Skeletal muscle atrophy ORPHA:477814
Mitochondrial Complex I Deficiency, Nuclear Type 26
Choreoathetosis, Distal amyotrophy, Dystonia, Limb hypertonia OMIM:618247
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy ORPHA:2013
Lipe-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in... ORPHA:435660
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb amyotrophy, Limb hypertonia ORPHA:401815
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Ragged-red muscle fibers, Generalized amyotrophy, Proximal amyotrophy OMIM:615084
Kennedy Disease
Skeletal muscle atrophy ORPHA:481
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variability in muscle fib... ORPHA:52430
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... ORPHA:178148
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... OMIM:613150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Resting tremor, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, ... OMIM:157640
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Distal lower limb amyotrophy, Distal amyotrophy, Multiple joint contractures, Exaggerated startle... ORPHA:320406
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Typical Nemaline Myopathy
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... ORPHA:171436
Sialidosis Type 2
Tremor, Skeletal muscle atrophy, Flexion contracture ORPHA:87876
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Proximal amyotrophy OMIM:604484
Facioscapulohumeral Dystrophy
Skeletal muscle atrophy ORPHA:269
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... ORPHA:101085
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Skeletal muscle atrophy OMIM:615578
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy OMIM:274240
Microhydranencephaly
Skeletal muscle atrophy, Athetosis, Multiple joint contractures, Generalized amyotrophy OMIM:605013
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Generalized dystonia,... OMIM:205100
Deafness, X-Linked 5, With Peripheral Neuropathy
Skeletal muscle atrophy OMIM:300614
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171430
Riboflavin Transporter Deficiency
Tremor, Skeletal muscle atrophy, Limb muscle weakness, Facial palsy ORPHA:97229
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98863
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy ORPHA:2840
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98853
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the musculature OMIM:253310
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Myopathy, Spinal muscular atrophy, Weakness of facial musculature ORPHA:254875
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy OMIM:602541
Congenital Myopathy 19
Skeletal muscle atrophy, Congenital contracture, Facial hypotonia OMIM:618578
Hypokalemic Periodic Paralysis
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Congenital Generalized Lipodystrophy
Skeletal muscle hypertrophy, Macroglossia ORPHA:528
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy OMIM:615980
Spastic Ataxia 5, Autosomal Recessive
Distal amyotrophy, Lower limb muscle weakness, Increased intramyocellular lipid droplets, Dystonia OMIM:614487
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... OMIM:255125
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Skeletal muscle atrophy, Hand tremor OMIM:162400
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Limb muscle weakness, Weakness of facial musculature ORPHA:329336
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Lower limb amyotrophy, Lower limb muscle weakness, Intention tremor OMIM:610532
Boucher-Neuhauser Syndrome
Distal amyotrophy, Intention tremor OMIM:215470
Choreoacanthocytosis
Skeletal muscle atrophy, Limb muscle weakness, Progressive choreoathetosis, Dystonia OMIM:200150
Leri-Weill Dyschondrosteosis
Skeletal muscle hypertrophy OMIM:127300
Sandhoff Disease, Juvenile Form
Skeletal muscle atrophy, Limb joint contracture ORPHA:309162
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness OMIM:612300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness OMIM:616479
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Joint contracture OMIM:615704
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Distal amyotrophy, Flexion contracture, Exaggerated startle response OMIM:609541
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy ORPHA:970
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Lower limb muscle weakness, Thenar muscle atrophy OMIM:604360
Melorheostosis
Skeletal muscle atrophy ORPHA:2485
Spastic Paraplegia 39, Autosomal Recessive
Distal amyotrophy, Distal lower limb muscle weakness OMIM:612020
Camurati-Engelmann Disease, Type 2
Hip contracture, Skeletal muscle atrophy, Knee flexion contracture OMIM:606631
Ataxia With Vitamin E Deficiency
Tremor, Skeletal muscle atrophy, Dystonia ORPHA:96
Short Stature-Micrognathia Syndrome
Skeletal muscle hypertrophy OMIM:617164
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Tremor, Athetosis, Generalized amyotrophy, Dystonia, Limb hypertonia OMIM:617710
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Skeletal muscle atrophy, Joint contracture OMIM:617481
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Skeletal muscle atrophy OMIM:619759
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy OMIM:618228
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyosarcoma, Cutaneous leiomyosarcoma, Decreased fumarate hydratase activity OMIM:150800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy OMIM:105550
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Tremor, Flexion contracture, Limb tremor, Facial diplegia, Limb muscle w... OMIM:218000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Macroglossia, Calf muscle hypertrophy, Shoulder girdle muscle weakne... OMIM:607155
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... ORPHA:600
Optic Atrophy 11
Facial diplegia, Athetosis, Increased variability in muscle fiber diameter, Fiber type grouping OMIM:617302
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Skeletal muscle atrophy, Foot dorsiflexor weakness OMIM:616586
Lissencephaly 8
Skeletal muscle atrophy OMIM:617255
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Skeletal muscle atrophy, Joint contracture OMIM:615419
Spinocerebellar Ataxia Type 36
Intention tremor, Skeletal muscle atrophy, Hand tremor, Head tremor ORPHA:276198
Pontocerebellar Hypoplasia, Type 16
Skeletal muscle atrophy, Limb hypertonia OMIM:619527
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myopathy, Increased variability in muscle fiber diameter, Limb dystonia OMIM:604377
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Limb joint contracture OMIM:612079
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Dystonia, Postural tremor, Abnormality of masticatory muscle ORPHA:98755
Pontocerebellar Hypoplasia, Type 1B
Skeletal muscle atrophy, Flexion contracture OMIM:614678
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy OMIM:162100
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Arthrogryposis multiplex congenita ORPHA:2254
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter OMIM:232800
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Knee flexion contracture, Distal amyotrophy, Skeletal myopathy, Lower li... ORPHA:3208
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Skeletal muscle atrophy OMIM:618603
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature OMIM:616239
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology ORPHA:3068
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy ORPHA:369840
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tremor, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Skeletal muscle hypertrophy, Myopathy, Proximal upper limb muscle hypertrophy, Muscle hypertrophy... ORPHA:280365
Congenital Disorder Of Glycosylation, Type Iio
Skeletal muscle atrophy OMIM:616828
Myopathy, Mitochondrial, And Ataxia
Tremor, Increased variability in muscle fiber diameter, Distal amyotrophy OMIM:617675
Autosomal Recessive Spastic Paraplegia Type 78
Skeletal muscle atrophy, Dystonia, Facial myokymia ORPHA:513436
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Flexion contracture, Choreoathetosis, Dystonia, Limb hypertonia ORPHA:59
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Tremor, Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increa... ORPHA:502423
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:85329
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Tremor, Distal amyotrophy, Increased variability in muscle fib... OMIM:164310
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... ORPHA:168572
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular atrophy, Generalized ... OMIM:271225
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:607598
L1 Syndrome
Skeletal muscle atrophy ORPHA:275543
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Skeletal muscle atrophy, Resting tremor, Dystonia OMIM:615157
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation... ORPHA:368
Postpoliomyelitis Syndrome
Skeletal muscle atrophy ORPHA:2942
Pontocerebellar Hypoplasia, Type 11
Skeletal muscle atrophy OMIM:617695
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Hypoplasia of the musculature ORPHA:85323
Sézary Syndrome
Tremor, Skeletal muscle atrophy ORPHA:3162
Becker Muscular Dystrophy
Skeletal muscle atrophy ORPHA:98895
Rhizomelic Chondrodysplasia Punctata, Type 5
Skeletal muscle atrophy, Contractures of the large joints OMIM:616716
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter OMIM:615595
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Muscula... ORPHA:559
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy ORPHA:1933
Developmental And Epileptic Encephalopathy 51
Skeletal muscle atrophy, Dystonia OMIM:617339
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy OMIM:616720
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content ORPHA:228302
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy ORPHA:230839
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy ORPHA:1486
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Flexion contracture of finger, Joint contracture of the hand, Camptodactyly OMIM:609033
Combined Oxidative Phosphorylation Deficiency 7
Skeletal muscle atrophy, Facial diplegia, Facial paralysis OMIM:613559
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Facial diplegia, Athetosis, Dystonia OMIM:612073
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:232500
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Distal amyotrophy ORPHA:2821
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy ORPHA:1876
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Skeletal muscle atrophy OMIM:618862
Flynn-Aird Syndrome
Skeletal muscle atrophy ORPHA:2047
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial palsy OMIM:617143
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Flexion contracture OMIM:619183
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy ORPHA:156
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy ORPHA:1344
Lethal Congenital Contracture Syndrome 10
Macroglossia, Increased variability in muscle fiber diameter, Torticollis OMIM:617022
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Dystonia ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Dystonia ORPHA:276241
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Distal arthrogryposis, Myopathy ORPHA:42
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Athetosis OMIM:257200
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Tibialis muscle weakness, Upper limb muscle weakness, Arthrogryposis mul... ORPHA:320375
Renpenning Syndrome
Skeletal muscle atrophy ORPHA:3242
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrop... ORPHA:800
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Skeletal muscle hypertrophy OMIM:619714
Sialidosis Type 1
Tremor, Skeletal muscle atrophy ORPHA:812
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Upper limb muscle weakness, Facial diplegia, Distal amyotrophy, Lower li... ORPHA:254930
Danon Disease
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... OMIM:300257
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Opisthotonus OMIM:619272
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m... ORPHA:98915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy OMIM:616538
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Multiple joint contractures, Flexion... OMIM:618291
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy OMIM:245400
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Myopathy, Weakness of facial musculature ORPHA:98673
Sandhoff Disease
Macroglossia, Skeletal muscle atrophy, Exaggerated startle response OMIM:268800
Lipodystrophy, Familial Partial, Type 2
Skeletal muscle hypertrophy, Increased intramuscular fat OMIM:151660
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Lower limb muscle weakness, Arm dystonia ORPHA:88644
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Flexion contracture ORPHA:75496
Cog8-Cdg
Skeletal muscle atrophy ORPHA:95428
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness OMIM:112250
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy OMIM:616420
Neuraminidase Deficiency
Skeletal muscle atrophy OMIM:256550
Rett Syndrome
Skeletal muscle atrophy, Dystonia OMIM:312750
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Dystonia ORPHA:276244
Spinocerebellar Ataxia 36
Skeletal muscle atrophy OMIM:614153
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy, Postural tremor ORPHA:447760
Adenylosuccinase Deficiency
Skeletal muscle atrophy, Opisthotonus OMIM:103050
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Choreoathetosis, Dystonia OMIM:615471
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy ORPHA:367
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Knee flexion contracture OMIM:603387
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Choreoath... ORPHA:17
Glycogen Storage Disease Xii
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting OMIM:611881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Exaggerated startle response, Flexion contracture, Calf muscle hypertrop... OMIM:253800
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Skeletal muscle atrophy ORPHA:127
Myhre Syndrome
Skeletal muscle hypertrophy ORPHA:2588
Tay-Sachs Disease
Skeletal muscle atrophy, Exaggerated startle response, Lower limb muscle weakness, Quadriceps mus... ORPHA:845
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy ORPHA:168563
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy ORPHA:803
Ruijs-Aalfs Syndrome
Skeletal muscle atrophy, Elbow flexion contracture OMIM:616200
12Q14 Microdeletion Syndrome
Tremor, Skeletal muscle atrophy ORPHA:94063
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Skeletal muscle atrophy, Flexion contracture, Limb hypertonia ORPHA:481152
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy OMIM:614300
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Skeletal muscle atrophy OMIM:620089
Rett Syndrome
Skeletal muscle atrophy, Dystonia ORPHA:778
Pontocerebellar Hypoplasia, Type 7
Choreoathetosis, Skeletal muscle atrophy, Opisthotonus OMIM:614969
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy OMIM:211530
Trisomy 17P
Macroglossia, Skeletal muscle atrophy, Flexion contracture ORPHA:261290
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy OMIM:219080
Myhre Syndrome
Skeletal muscle hypertrophy, Generalized muscle hypertrophy, Camptodactyly OMIM:139210
Bardet-Biedl Syndrome
Skeletal muscle atrophy ORPHA:110
Spinocerebellar Ataxia 1
Skeletal muscle atrophy, Distal amyotrophy OMIM:164400
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Opisthotonus OMIM:210210
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop... ORPHA:98908
Polymyositis
Abnormal muscle fiber morphology ORPHA:732
Hereditary Folate Malabsorption
Skeletal muscle atrophy ORPHA:90045
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:619743
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Myopathy, Facial palsy ORPHA:1358
Refsum Disease
Skeletal muscle atrophy ORPHA:773
Triosephosphate Isomerase Deficiency
Tremor, Skeletal muscle atrophy, Myopathy, Dystonia OMIM:615512
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Skeletal muscle atrophy, Flexion contracture OMIM:300243
Multiple System Atrophy 1, Susceptibility To
Tremor, Skeletal muscle atrophy OMIM:146500
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis ORPHA:251061
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Knee flexion contracture ORPHA:435638
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Rhabdomyolysis, Increased intramyocellular lipid droplets ORPHA:26791
Donohue Syndrome
Skeletal muscle atrophy OMIM:246200
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy OMIM:614856
Walker-Warburg Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy ORPHA:899
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe... ORPHA:2912
Japanese Encephalitis
Skeletal muscle atrophy, Facial palsy, Tremor, Elbow flexion contracture, Opisthotonus, Choreoath... ORPHA:79139
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat... OMIM:254940
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Flexion contracture OMIM:300232
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi... OMIM:305620
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis OMIM:615934
Mitochondrial Dna-Associated Leigh Syndrome
Abnormality of Krebs cycle metabolism, Ragged-red muscle fibers, Dystonia ORPHA:255210
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Limb joint contracture, Postural tremor, Flexion contracture, Lower limb... OMIM:301072
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Dystonia ORPHA:496641
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Congenital ... ORPHA:2215
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Limb-girdle muscle weakness, Rhabdomyolysis, Pelvic girdle muscle weakness ORPHA:79240
Autosomal Recessive Spastic Paraplegia Type 20
Upper limb muscle weakness, Skeletal muscle atrophy, Distal amyotrophy ORPHA:101000
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Tremor, Rhabdomyolysis, Increased intramyocellular lipid drople... ORPHA:79102
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy OMIM:615802
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Joint contracture of the hand, Arthrogryposis multiplex congenita, Campt... OMIM:601701
Neu-Laxova Syndrome
Skeletal muscle atrophy, Flexion contracture, Opisthotonus, Muscular dystrophy, Aplasia/Hypoplasi... ORPHA:2671
Recon Progeroid Syndrome
Skeletal muscle atrophy OMIM:620370
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:617193
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy OMIM:219090
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Dupuytren contracture ORPHA:39812
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Choreoathetosis, Myopathy, Athetosis, Dystonia ORPHA:506
Localized Scleroderma
Skeletal muscle atrophy, Flexion contracture, Myopathy ORPHA:90289
Congenital Myopathy 13
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Increased int... OMIM:255995
Moebius Syndrome
Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Arthrogryposis multiplex congeni... ORPHA:570
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance OMIM:614557
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia of the abdominal wall musculature, Arthrogryposis mul... ORPHA:2990
Werner Syndrome
Skeletal muscle atrophy ORPHA:902
Coffin-Lowry Syndrome
Skeletal muscle atrophy ORPHA:192
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Tremor, Skeletal muscle hypertrophy, Limb hypertonia, Action tremor ORPHA:3455
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Abnormality of chromosome stability, Rhabdomyosarcoma ORPHA:647
Farber Disease
Skeletal muscle atrophy, Flexion contracture ORPHA:333
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Increased sarcoplasmic glycogen ORPHA:264580
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy ORPHA:1969
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy OMIM:618252
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy OMIM:608779
Tbck-Related Intellectual Disability Syndrome
Macroglossia, Skeletal muscle atrophy, Diastasis recti ORPHA:488632
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy OMIM:615895
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Ragged-red muscle fibers, Increased intramyocellular lipid droplets OMIM:252010
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:109
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Flexion contracture ORPHA:89842
Duane Retraction Syndrome
Blepharospasm, Skeletal muscle atrophy, Camptodactyly ORPHA:233
Tick-Borne Encephalitis
Tremor, Skeletal muscle atrophy, Facial palsy ORPHA:297
Camurati-Engelmann Disease
Skeletal muscle atrophy OMIM:131300
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Dystonia OMIM:256810
Marden-Walker Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Arthrogryposis multiplex co... ORPHA:2461
Immunodeficiency 31C
Skeletal muscle atrophy OMIM:614162
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Flexion contracture, Intention tremor ORPHA:90324
Mowat-Wilson Syndrome
Generalized muscle hypertrophy OMIM:235730
Lysinuric Protein Intolerance
Skeletal muscle atrophy OMIM:222700
Parkes Weber Syndrome
Lower limb muscle weakness, Muscle hypertrophy of the lower extremities ORPHA:90307
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Abnormality of the tongue muscle, Abnormality of masticatory muscle, Fac... ORPHA:273
Cockayne Syndrome
Skeletal muscle atrophy, Contractures of the large joints, Congenital contracture, Limb hypertoni... ORPHA:191
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:536545
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Flexion contracture, Camptodactyly OMIM:309590
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Camptodactyly of finger, Flexion contracture, Elbow flexion contracture,... OMIM:256040
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy ORPHA:3260
Pierson Syndrome
Skeletal muscle atrophy OMIM:609049
Leprosy
Skeletal muscle atrophy, Foot dorsiflexor weakness ORPHA:548
Camurati-Engelmann Disease
Skeletal muscle atrophy, Facial palsy ORPHA:1328
Cystinosis, Nephropathic
Skeletal muscle atrophy, Myopathy OMIM:219800
45,X/46,Xy Mixed Gonadal Dysgenesis
Muscle hypertrophy of the lower extremities ORPHA:1772
Marfan Syndrome
Skeletal muscle atrophy ORPHA:558
Atypical Werner Syndrome
Calf muscle hypertrophy, Abnormality of the Achilles tendon, Skeletal muscle atrophy ORPHA:79474
Stickler Syndrome
Macroglossia, Skeletal muscle atrophy ORPHA:828
Leprechaunism
Skeletal muscle atrophy ORPHA:508
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy ORPHA:284339
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Flexion contracture, Knee flexion contracture, Distal a... OMIM:259050
Oculopharyngeal Muscular Dystrophy 1
Limb muscle weakness, Facial palsy OMIM:164300

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pabpn1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pabpn1.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
PABPN1L assemble into "ring-like" aggregates in the cytoplasm of MII oocytes and is associated with female infertility†. Biology of reproduction (January 2022) Pabpn1ltm1a(EUCOMM)Wtsi 34726234
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Pabpn1ltm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Pabpn1ltm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Pabpn1ltm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Pabpn1ltm1a(EUCOMM)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Pabpn1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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