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Gene: Dysf MGI:1349385

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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:
dysferlin
Synonyms:
2310004N10Rik

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 Dysf 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 predicted to be associated to Dysf by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy, Congenital, With Rapid Progression
Muscle weakness, Congenital muscular dystrophy OMIM:254100
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Muscle weakness, Central core regions in muscle fibers OMIM:159050
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Beevor's sign, Pelvic girdle muscle weakness, Scapulohumeral muscular dystrophy, Foot dorsiflexor... OMIM:158901
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... OMIM:601954
Miyoshi Muscular Dystrophy 3
Distal upper limb muscle weakness, Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular d... OMIM:613319
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, Muscular dystrophy, ... OMIM:254130
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy, Limb-girdle muscle weakness, Gowers sign OMIM:616094
Myopathy, Distal, With Rimmed Vacuoles
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... OMIM:617158
Vacuolar Neuromyopathy
Muscle fiber splitting, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder ... OMIM:601846
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Muscular dystrophy, Elevated... OMIM:613530
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Eleva... OMIM:615424
Polyglucosan Body Myopathy 2
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Elevated ci... OMIM:616199
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy, Proximal muscle weakness, Neck muscle weakness OMIM:612998
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... OMIM:618848
Spinal Muscular Atrophy, Type Iv
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... OMIM:271150
Distal Anoctaminopathy
Peroneal muscle atrophy, Rhabdomyolysis, Progressive proximal muscle weakness, Progressive muscle... ORPHA:399096
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Generalized muscle weakness, Flexion contracture, Proximal muscle weakness, Gowers sign, Muscular... OMIM:613723
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... OMIM:608807
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... OMIM:618655
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:619733
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... OMIM:253601
Myopathy, Centronuclear, 4
Abnormal circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, T... OMIM:614807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Muscle eosinophilia, Elevate... OMIM:253600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Proximal muscle weakness, Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy,... OMIM:611307
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Muscle weakness OMIM:253590
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... OMIM:613204
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Tubular Aggregate Myopathy
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... ORPHA:2593
Myopathy, Distal, Tateyama Type
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... OMIM:614321
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Highly elevated creatine kinase, Increased variability in muscle fiber diameter, Myopathy, Centra... OMIM:618992
Distal Myopathy With Anterior Tibial Onset
Tibialis muscle weakness, Limb-girdle muscle weakness, Weakness of the intrinsic hand muscles, Fi... ORPHA:178400
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:612999
Myopathy, Distal, 5
Muscle fiber splitting, Mildly elevated creatine kinase, Weakness of facial musculature, Myopathy... OMIM:617030
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Elevated circulati... OMIM:605820
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Elevated circulating creatine k... OMIM:615422
Myopathy, Myofibrillar, 4
Muscle fiber splitting, Progressive proximal muscle weakness, Autophagic vacuoles, Progressive di... OMIM:609452
Inclusion Body Myositis
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Elevated circulating creatine kinase ... ORPHA:611
Muscular Dystrophy, Progressive Pectorodorsal
Muscular dystrophy, Scapular winging, Shoulder girdle muscle weakness OMIM:310095
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Limb-girdle muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concentrati... OMIM:604286
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles, Mildly elevated creatine kinase OMIM:604454
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Proximal muscle weakness in low... OMIM:158600
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... OMIM:618129
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Limb-girdle muscle weakness, Muscular dystrophy, Elevated circulating creatine kinase concentrati... OMIM:613818
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Proximal muscle weakness, Calf muscle hypertrophy, Muscular dystrophy, Gowers sign, Proximal amyo... OMIM:601287
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Muscular dystrophy, Generalized muscle weakness OMIM:613152
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f... ORPHA:34515
Myopathy, Distal, 3
Joint contracture of the hand, Muscular dystrophy, EMG: myopathic abnormalities, Mildly elevated ... OMIM:610099
Tibial Muscular Dystrophy
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... ORPHA:609
Myopathy, Distal, 7, Adult-Onset, X-Linked
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... OMIM:609115
Distal Nebulin Myopathy
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Neck flexor weakn... ORPHA:399103
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Proximal muscle weakness, Skeletal muscle hypertrophy OMIM:613158
Gne Myopathy
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... OMIM:603511
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Elevated creatine kin... ORPHA:263494
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:160570
Myopathy, Centronuclear, 1
Flexion contracture, Centrally nucleated skeletal muscle fibers, Proximal upper limb amyotrophy, ... OMIM:160150
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Weakness of long finger extensor muscles, Limb-girdle muscle weakness, Wrist drop, Generalized mu... ORPHA:98912
Myopathy, Scapulohumeroperoneal
Increased variability in muscle fiber diameter, Neck flexor weakness, Wrist drop, Centrally nucle... OMIM:616852
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform OMIM:302045
Oculopharyngodistal Myopathy 2
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... OMIM:618940
Episodic Muscle Weakness, X-Linked
Muscle weakness OMIM:300211
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... OMIM:617760
Myasthenic Syndrome, Congenital, 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... OMIM:616228
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... ORPHA:399058
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... OMIM:117000
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Tremor, Fiber type grouping OMIM:614369
Muscular Dystrophy, Congenital, 1B
Gowers sign, Congenital muscular dystrophy, Achilles tendon contracture, Generalized muscle hyper... OMIM:604801
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Generalized limb mu... OMIM:608358
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... OMIM:617072
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Eleva... OMIM:609524
Amish Nemaline Myopathy
Hip contracture, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder flexion... ORPHA:98902
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles OMIM:615426
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Calf muscle hypertrophy, Elevated circulating creatine kinase concentration, Myositis, Skeletal m... ORPHA:565899
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Elb... OMIM:619566
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculature, Foot dorsiflexor weakn... OMIM:181400
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Proximal muscle weakness, Muscular dystrophy, Ske... OMIM:614302
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... OMIM:253700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Elevate... OMIM:615352
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Elev... OMIM:613157
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... ORPHA:59135
Myopathy, Autophagic Vacuolar, Infantile-Onset
Elevated circulating creatine kinase concentration, Myopathy, Autophagic vacuoles OMIM:609500
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Wrist flexion contracture, Congenital finger flexion contractures, Flexion contracture, Proximal ... ORPHA:267
Multifocal Motor Neuropathy
Progressive muscle weakness, Weakness of long finger extensor muscles, Progressive distal muscle ... ORPHA:641
Hereditary Myopathy With Early Respiratory Failure
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:178464
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy... ORPHA:1878
Myopathy, Myofibrillar, 2
Muscle fiber splitting, Limb-girdle muscle weakness, Late-onset proximal muscle weakness, Lower l... OMIM:608810
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated skeletal muscle fiber... OMIM:618823
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture, Elevated circulating creati... OMIM:609308
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Elevated circulating creatine kinase concentration, Proximal muscle weakness in lower limbs, Ragg... OMIM:616209
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Elevated circulating creatine kinase concentration, Muscle fiber cyt... OMIM:609200
Myofibrillar Myopathy 11
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... OMIM:619178
Distal Myotilinopathy
Multiple joint contractures, Progressive proximal muscle weakness, Abnormal muscle fiber myotilin... ORPHA:98911
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentra... OMIM:300376
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Elevated circ... OMIM:123320
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... ORPHA:603
Cardiomyopathy, Dilated, 1X
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:611615
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... ORPHA:266
Nemaline Myopathy 5
Z-band streaming, Hip contracture, Shoulder flexion contracture, Type 1 muscle fiber predominance... OMIM:605355
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Generalized amyotrophy, Muscular dystrophy, Elbow flexion contracture, Elevated circulating creat... OMIM:616516
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Congenital muscular dystrophy, Flexion contracture, Eleva... OMIM:607855
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased intramyocellular lipid droplets, Mildly elevated creatine kinase, Weakness of facial mu... ORPHA:457050
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Rhabd... OMIM:620138
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Proximal muscle weakness, Gowers sign, Muscular dystrophy, Achilles tendon contracture, Calf musc... ORPHA:62
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... OMIM:300717
Congenital Myopathy 5 With Cardiomyopathy
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... OMIM:611705
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle atrophy, Limb-girdle muscle weakness, Distal lower limb amyotrophy, Muscular dyst... OMIM:181350
Muscular Dystrophy, Congenital, Megaconial Type
Gowers sign, Muscular dystrophy, Congenital muscular dystrophy, Muscle weakness, Myopathy, Facial... OMIM:602541
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... OMIM:616812
Immune-Mediated Necrotizing Myopathy
Skin rash, Muscle fiber necrosis, Myositis, EMG: myopathic abnormalities, Elevated circulating cr... ORPHA:206569
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Macroglossia, Elevated circulatin... OMIM:616827
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia, Weakness of facial musculature, Angulated muscle fibers, Scapular winging, ... OMIM:619477
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Ragged-red muscle fibers, Ele... OMIM:500002
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase... OMIM:615350
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:309930
Nemaline Myopathy 6
Elevated circulating creatine kinase concentration, Nemaline bodies, Myopathy, Skeletal muscle at... OMIM:609273
Focal Myositis
Myositis, Elevated circulating creatine kinase concentration ORPHA:48918
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... ORPHA:488650
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Elevated circulating creatine kinase concentration, Myopathy, R... ORPHA:270
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Elevated circulating creatin... OMIM:616471
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... ORPHA:34516
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Calf muscle hypertrophy, Reduced muscle fiber alpha dystroglycan, Elevated circulating creatine k... ORPHA:280333
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... ORPHA:399086
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... OMIM:612937
Congenital Muscular Dystrophy Without Intellectual Disability
Fatty replacement of skeletal muscle, Congenital muscular dystrophy, Achilles tendon contracture,... ORPHA:370980
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Type... OMIM:619042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Muscular dystrophy, Congenital muscular dystrophy, Elevated circulating creatine kinase concentra... OMIM:613151
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613869
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Flexion contracture, Skeletal muscle hypertrophy, Elevated circulating creati... OMIM:611588
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy OMIM:254000
Myositis
Myositis OMIM:160750
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... ORPHA:206549
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Focal dystonia, Tremor, Proximal muscle weakness in lower limbs, Upper limb... ORPHA:309169
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture, Elevated circulating creatin... OMIM:300718
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha... OMIM:160565
Desminopathy
Fatigable weakness of bulbar muscles, Neck flexor weakness, Fatigable weakness of respiratory mus... ORPHA:98909
Myopathy, X-Linked, With Postural Muscle Atrophy
Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor... OMIM:300696
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Abnormal circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:618484
Multiminicore Myopathy
Abnormal muscle fiber morphology, Congenital muscular dystrophy, Myopathy, Minicore myopathy, Pro... ORPHA:598
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Generalized amyotrophy, Congenital muscular dystrophy, Achilles tendon contractu... OMIM:613205
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Calf muscle hypertrophy, Muscular dystrophy, Elbow flexion contrac... OMIM:608840
Congenital Myopathy 14
Knee flexion contracture, Increased variability in muscle fiber diameter, Abnormal circulating cr... OMIM:618414
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Elevated circulating creatine kinase concentration, Weakness of facial musculature, Skeletal musc... OMIM:617069
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Lo... OMIM:616924
Congenital Myopathy 1B, Autosomal Recessive
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... OMIM:255320
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:437572
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Flexion contractur... OMIM:616470
Duchenne Muscular Dystrophy
Flexion contracture, Proximal muscle weakness, Calf muscle hypertrophy, Progressive muscle weakne... ORPHA:98896
Facioscapulohumeral Muscular Dystrophy 1
External ophthalmoplegia, Calf muscle hypertrophy, Beevor's sign, Abdominal wall muscle weakness,... OMIM:158900
Oculopharyngodistal Myopathy
Tibialis muscle weakness, Fatigable weakness of bulbar muscles, Distal upper limb muscle weakness... ORPHA:98897
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Abnormal circulating creatine kinase concentration, Distal lower limb amyotrophy, Lower limb musc... OMIM:620068
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, Punct... OMIM:226670
Bethlem Myopathy
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... ORPHA:610
Lower Motor Neuron Syndrome With Late-Adult Onset
EMG: myopathic abnormalities, Increased intramuscular fat, Ragged-red muscle fibers, Tremor, Intr... ORPHA:276435
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Congenital Myopathy 3 With Rigid Spine
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:602771
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... ORPHA:596
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Oculopharyngodistal Myopathy 4
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Postural tr... OMIM:619790
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Increased variability in muscle fiber diameter, Calf muscle hypertrophy, ... OMIM:603689
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Multi... ORPHA:486815
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Lower limb muscle weakness, Calf muscle hypertrophy, Macroglossia, Elevated circulating creatine ... OMIM:616052
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... ORPHA:401768
Myopathy, Myofibrillar, 6
Knee flexion contracture, Myofibrillar myopathy, Generalized muscle weakness, Proximal muscle wea... OMIM:612954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Joint contracture, Elevated circulating creatine kinase concentration, Genera... OMIM:615351
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Facial palsy, Ragged-red muscle fibers, EMG: myopathic abnormalities OMIM:609283
Myopathy, Centronuclear, 5
Abnormal circulating creatine kinase concentration, Weakness of facial musculature, Hip contractu... OMIM:615959
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Limb-girdle muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy,... OMIM:255160
Hereditary Continuous Muscle Fiber Activity
Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Type 1 muscl... ORPHA:972
Oculopharyngodistal Myopathy 3
Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... OMIM:619473
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Internally nucleated ske... OMIM:618138
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Proximal muscle weakness, Generalized amyotrophy, Progressive proximal muscle weakness, Shoulder ... OMIM:167320
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... OMIM:616313
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Congenital muscular dystrophy, ... OMIM:613155
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumu... OMIM:619518
Myopathy, Distal, 1
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... OMIM:160500
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... OMIM:618654
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ... ORPHA:171442
Zebra Body Myopathy
Muscle fiber splitting, Autophagic vacuoles, Torticollis, EMG: myopathic abnormalities, Muscle fi... ORPHA:97240
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Lower limb muscle weakness, Abnormality of jaw muscles, Highly elevated creati... ORPHA:99845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle a... ORPHA:2926
Myopathy And Diabetes Mellitus
Skeletal myopathy, Weakness of orbicularis oculi muscle, Distal lower limb amyotrophy, Achilles t... ORPHA:2596
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Axial muscle atrophy, Limb-girdle muscle weakness, Generalized muscle weakness, Calf muscle hyper... ORPHA:254361
Idiopathic Camptocormia
Fatty replacement of skeletal muscle, Myelitis, Proximal spinal muscular atrophy, EMG: myopathic ... ORPHA:1320
Amyotrophic Lateral Sclerosis 21
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Shoul... OMIM:606070
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Arthritis, Myositis, Pustule, Increased inflammatory response, Acne ORPHA:69126
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Abnormal mitochondria in muscle tissue, Progressive external ophthalmoplegia, Progressive proxima... ORPHA:663
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... ORPHA:98905
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Increased variability in muscle fiber diameter, Increased circulating creatin... OMIM:613752
Amyotrophic Lateral Sclerosis 8
Proximal muscle weakness, Progressive muscle weakness, Distal muscle weakness, Skeletal muscle at... OMIM:608627
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers, Increased serum pyruvate OMIM:545000
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Lower limb muscle weakness, Muscular dystrophy, Elevate... OMIM:615980
Glycogen Storage Disease Ixd
Lower limb muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosi... OMIM:300559
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Muscle fiber in... OMIM:605637
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Increased serum pyruvate ORPHA:238329
Moderate Multiminicore Disease With Hand Involvement
Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance ORPHA:178145
Mitochondrial Myopathy, Infantile, Transient
Decreased plasma carnitine, Macroglossia, Elevated circulating creatine kinase concentration, Inc... OMIM:500009
Congenital Myopathy 4A, Autosomal Dominant
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Centrally nucleated ... OMIM:255310
Eosinophilic Fasciitis
Myositis, Arthritis, Muscular edema, Fasciitis ORPHA:3165
Nemaline Myopathy 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Fatt... OMIM:256030
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Achilles tendon contracture, ... OMIM:617258
Variant Abeta2M Amyloidosis
Abnormal skeletal muscle morphology, Cutaneous amyloidosis, Amyloidosis of peripheral nerves, Car... ORPHA:314652
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Myopathy, Frontalis muscle weakness, Type 1 fibers relatively smaller than type 2 f... OMIM:300580
Myopathy, Centronuclear, 2
Flexion contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, EMG: myo... OMIM:255200
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Abnormality of the foot musculature, Calf muscle hype... ORPHA:169189
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Elevated circulating creatine ... OMIM:617070
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... ORPHA:353
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy, Left ventricular hypertro... OMIM:613156
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Proximal lower limb amyotrophy, Muscle fiber necrosis, Elevated circulating ... OMIM:310440
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Type 1 muscle fiber predominanc... OMIM:619542
Lethal Congenital Contracture Syndrome 5
Elevated circulating creatine kinase concentration, Flexion contracture, Centrally nucleated skel... OMIM:615368
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration, Myopathy, Elevated creatine kinase after exer... ORPHA:206599
Marinesco-Sjogren Syndrome
Flexion contracture, Centrally nucleated skeletal muscle fibers, Elevated circulating creatine ki... OMIM:248800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Type 1 muscle fiber p... OMIM:613954
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Dystonia, Increased intramyocellular lipid droplets OMIM:619065
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Generalized muscle weakness, Spinal muscular atrophy, Ophthalmoparesis, Progressive external opht... ORPHA:254875
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Gowers sign,... ORPHA:169186
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Elevated circulating cre... ORPHA:119
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Flexion contracture, Muscular dystrophy, Myopathy, Hypoglycosylation of ... ORPHA:272
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Muscle fiber atrophy, Muscular dystrophy, Myo... ORPHA:369840
Ataxia-Oculomotor Apraxia Type 4
Muscular dystrophy, Progressive distal muscular atrophy, Distal lower limb muscle weakness ORPHA:459033
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy ORPHA:1875
Myeloma, Multiple
Amyloidosis OMIM:254500
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Limb-girdle muscle weakness, Highly elevated creatine kinase, Macroglossia, Calf muscle pseudohyp... ORPHA:352479
Congenital Muscular Dystrophy, Ullrich Type
Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge... ORPHA:75840
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers, Increased serum pyruvate OMIM:300816
Miyoshi Myopathy
Tibialis muscle weakness, Distal lower limb amyotrophy, Calf muscle hypertrophy, Triceps weakness... ORPHA:45448
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type grouping, Distal lower limb muscle ... OMIM:619903
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Increased variability in muscle fiber diameter, Diaphragmatic eventratio... OMIM:614399
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Calf muscle hypertrophy, Congenital muscular dystrophy, Achilles tendon contracture, Elbow contra... OMIM:606612
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Nemaline Myopathy 4
Flexion contracture, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bodies, Skeletal... OMIM:609285
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression, Decreased circulating ferritin concentration ORPHA:330054
Central Core Disease
Abnormal circulating creatine kinase concentration, Multiple joint contractures, Central core reg... ORPHA:597
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Camptodacty... OMIM:620161
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Flexion contracture, Skeletal muscle atrophy, Panniculitis OMIM:619183
Ullrich Congenital Muscular Dystrophy 1
Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Cong... OMIM:254090
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Triceps weakness, Tremor, Intrinsic hand muscle atrop... OMIM:619574
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Rhabdomyolysis, Type 1 muscle fiber predominance, EMG: myopathic abn... ORPHA:424107
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Pustule, Rheumatoid arthritis ORPHA:48104
Classic Multiminicore Myopathy
Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Congenital muscular dy... ORPHA:324604
Periodic Fever, Familial, Autosomal Dominant
Conjunctivitis, Oligoarthritis, Skin rash, Erysipelas, Myositis, Maculopapular exanthema OMIM:142680
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Flexion contracture, EMG: myopathic abnormalities... ORPHA:171439
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Multiple j... OMIM:617114
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Lower limb ... ORPHA:397744
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Elevated circulating creatine kinase concentration OMIM:606768
Congenital Myopathy 4B, Autosomal Recessive
Flexion contracture, Distal lower limb amyotrophy, EMG: myopathic abnormalities, Facial diplegia,... OMIM:609284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:615181
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased plasma carnitine, Macroglossia, Mildly elevated creatine kinase, Myopathy, Increased mu... ORPHA:254864
Graft Versus Host Disease
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Inflammatory abnormalit... ORPHA:39812
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Calf muscle hypertrophy, Reduced muscle fiber alpha dystroglycan,... ORPHA:206559
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Flexion contracture, Muscle fiber atrophy, Muscular dystrophy, Highly elevated creatine kinase, C... ORPHA:258
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness OMIM:300076
Nemaline Myopathy 11, Autosomal Recessive
Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predominance, Nemaline bo... OMIM:617336
Glycerol Kinase Deficiency
Muscular dystrophy, Hypertriglyceridemia, Myopathy OMIM:307030
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Elevated circulating creatine kinase concentration, Weakness of facial musculatur... OMIM:618416
Sting-Associated Vasculopathy, Infantile-Onset
Malar rash, Skin rash, Myositis, Pustule, Skeletal muscle atrophy, Pustular rash, Elevated circul... OMIM:615934
Antisynthetase Syndrome
Skin rash, Keratoconjunctivitis sicca, Elevated circulating creatine kinase concentration, Myosit... ORPHA:81
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Proximal muscle weakness, Progressive external ophthalmoplegia, Ragged-red muscle fibers, EMG: my... OMIM:609286
Bacterial Toxic-Shock Syndrome
Septic arthritis, Myocarditis, Osteomyelitis, Hepatitis, Skin rash, Fasciitis, Arthritis, Periton... ORPHA:36234
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Increased serum pyruvate OMIM:616794
Striatonigral Degeneration, Infantile, Mitochondrial
Paroxysmal choreoathetosis, Ragged-red muscle fibers, Lingual dystonia OMIM:500003
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Congenital muscular dystrophy ORPHA:324416
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration OMIM:613153
Congenital Myasthenic Syndromes With Glycosylation Defect
Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Type 1 muscle fiber p... ORPHA:353327
Proteasome-Associated Autoinflammatory Syndrome 3
Conjunctivitis, Flexion contracture, Skin rash, Arthritis, Myositis, Sinusitis, Panniculitis, Hyp... OMIM:617591
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus, Increased variability in muscle fiber diameter, Flexion contracture, Sp... OMIM:616867
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Absent muscle dystrophin expression, Calf muscle hypertrophy, Elbow flexion contracture, Abnormal... ORPHA:206546
Muscular Dystrophy, Duchenne Type
Knee flexion contracture, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Achil... OMIM:310200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Calf muscle hypertrophy, Achilles tendon contracture, Congenital muscular dystrophy, Macroglossia... OMIM:607155
Marinesco-Sjögren Syndrome
Abnormal circulating creatine kinase concentration, Muscular dystrophy, Aplasia/Hypoplasia involv... ORPHA:559
Congenital Disorder Of Glycosylation, Type Ie
Knee flexion contracture, Patent ductus arteriosus, Muscular dystrophy, Camptodactyly, Elevated c... OMIM:608799
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Generalized amyotrophy, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic abnormalities, ... OMIM:609560
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers OMIM:618242
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Skeletal muscle atrophy, Type 1 muscle fiber predominance OMIM:618276
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, ... ORPHA:57
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Increased variability in muscle fiber diameter, Elevated circulating creatine... OMIM:616538
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Distal arthrogryposis, Plantar flexion contracture, Wrist drop, Diaphragmatic eventration, Skelet... OMIM:620011
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:619334
Nemaline Myopathy 8
Nemaline bodies, Myofibrillar myopathy, Flexion contracture, Facial palsy OMIM:615348
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter OMIM:614096
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Knee flexion contracture, Elbow flexion contracture, Achilles tendon contracture, Elevated circul... OMIM:310300
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Neck flexor weakness, Rhabdomyolysis, Progressive... OMIM:157640
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Athetosis OMIM:617235
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Crusting erythematous dermatitis, Eczema, Abnormal blood ion concentr... ORPHA:37042
Myopathic Ehlers-Danlos Syndrome
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... ORPHA:536516
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets... ORPHA:681
Lipodystrophy, Congenital Generalized, Type 4
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:613327
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Elbow flexion contracture, Ab... ORPHA:1145
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Gowers sign, Generalized limb muscle atrophy, Progressive muscle weakness, Muscle weakness, Scapu... OMIM:600462
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture, Elevated circula... OMIM:613154
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Rhabdomyolysis, M... ORPHA:228302
Sweet Syndrome
Oligoarthritis, Acne inversa, Myositis, Inflammation of the large intestine, Pustule, Predominant... ORPHA:3243
Whipple Disease
Arthritis, Uveitis, Myositis, Pericarditis, Hyponatremia, Infectious encephalitis, Myocarditis ORPHA:3452
Spinocerebellar Ataxia 28
Dystonia, Ragged-red muscle fibers, Lower limb hypertonia OMIM:610246
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Tremor OMIM:619028
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Generalized amyotrophy, Choreoathetosis, Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy... OMIM:617519
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Type 1 muscle fiber predominance, Myopathy, Type 2 muscle fiber atrophy, L... OMIM:603034
Arts Syndrome
Progressive muscle weakness OMIM:301835
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Gener... OMIM:607459
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Tubulointerstitial nephritis, Skin rash, Arthritis, Myositis, Increased inflammator... ORPHA:183
Myasthenia Gravis
Myositis, Hashimoto thyroiditis, Rheumatoid arthritis, Hepatitis ORPHA:589
Mixed Connective Tissue Disease
Skin rash, Arthritis, Keratoconjunctivitis sicca, Myositis, Pericarditis, Gastritis, Myocarditis ORPHA:809
Pediatric Systemic Lupus Erythematosus
Malar rash, Discoid lupus rash, Skin rash, Arthritis, Nephritis, Myositis ORPHA:93552
Fusariosis
Maculopapular exanthema, Osteomyelitis, Bronchiectasis, Arthritis, Fasciitis, Myositis, Sinusitis... ORPHA:228119
Neuronopathy, Distal Hereditary Motor, Type X
Bronchiectasis, Osteoarthritis, Tendon rupture, Distal lower limb muscle weakness, Scapular wingi... OMIM:620080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Muscular dystrophy, Flexion contracture, Elevated circulating creatine kinase concentration OMIM:615249
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Generalized amyotroph... ORPHA:171881
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Conjunctivitis, Skin rash, Fasciitis, Arthritis, Uveitis, Erysipelas, Myositis, Pericarditis, Ele... ORPHA:32960
Congenital Muscular Dystrophy With Cerebellar Involvement
Congenital muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Macroglossia, Elevated ci... ORPHA:370959
Congenital Fiber-Type Disproportion Myopathy
Knee flexion contracture, Fatigable weakness of bulbar muscles, Generalized muscle weakness, Flex... ORPHA:2020
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Macroglossia, Elevated circul... OMIM:613150
Ataxia-Telangiectasia-Like Disorder 2
Progressive muscle weakness, Muscle weakness, Flexion contracture OMIM:615919
Atrial Standstill
Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy, Left ventricular noncompaction ORPHA:1344
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Rhabdomyolysis, Progressive proximal muscle weakness, Glycogen accumulation in muscle fiber lysos... ORPHA:368
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Muscle weakness, Skeletal muscle atrophy OMIM:254950
Juvenile Dermatomyositis
Calcinosis, Skin rash, Arthritis, Elevated circulating creatine kinase concentration, Myositis, P... ORPHA:93672
S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Muscular dystrophy, Hyperhomocystinemia, Elevated circulating creatine kinase... ORPHA:88618
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Lower limb muscle weakness, Hand muscle atrophy, Intrinsic hand muscle atrophy, Type 2 muscle fib... OMIM:601462
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... ORPHA:171436
Infantile Refsum Disease
Progressive muscle weakness, Facial palsy ORPHA:772
Pyomyositis
Myositis, Recurrent cutaneous abscess formation ORPHA:764
Thymoma
Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis ORPHA:99867
Adult-Onset Distal Myopathy Due To Vcp Mutation
Fatty replacement of skeletal muscle, Weakness of the intrinsic hand muscles, EMG: myopathic abno... ORPHA:329478
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular mu... OMIM:181405
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Generalized amyotrophy, EMG... OMIM:258450
Amyloidosis, Familial Visceral
Generalized amyloid deposition OMIM:105200
Autosomal Recessive Progressive External Ophthalmoplegia
Muscle fiber atrophy, Facial palsy, Elevated circulating creatine kinase concentration, Optic neu... ORPHA:254886
Intermediate Nemaline Myopathy
Flexion contracture, EMG: myopathic abnormalities, Facial diplegia, Nemaline bodies, Type 1 muscl... ORPHA:171433
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Generalized... ORPHA:52430
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Decreased muscle mass, Skeletal muscle atrophy, Type 2 muscle fiber atrophy, Arthrogryposis multi... OMIM:608931
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Limb muscle weakness OMIM:606842
Combined Oxidative Phosphorylation Defect Type 27
Upper limb postural tremor, Ragged-red muscle fibers ORPHA:477774
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Weakness of facial musculature, Type 2 muscle fiber atrophy, Limb muscle weakness, Arthrogryposis... OMIM:608930
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hyperalaninemia, Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnorm... OMIM:615418
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture, Proximal lowe... ORPHA:98855
Palmoplantar Carcinoma, Multiple Self-Healing
Amyloidosis, Cutaneous macular amyloidosis OMIM:615225
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy OMIM:605809
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Progressive proximal muscle weakness, Myopathy ORPHA:369847
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Rhabdomyolysis, Increased intramyocellular lipid ... OMIM:255125
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive muscle weakness, Limb muscle weakness, Progressive external ophthalmoplegia, Facial p... OMIM:610131
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Arthrogryposis mu... ORPHA:178148
Aa Amyloidosis
Renal amyloidosis, Amyloidosis ORPHA:85445
Microsporidiosis
Endocarditis, Lymphadenitis, Myocarditis, Rhinitis, Osteomyelitis, Prostatitis, Keratoconjunctivi... ORPHA:2552
Acys Amyloidosis
Cerebral amyloid angiopathy, Amyloidosis ORPHA:100008
Mitochondrial Dna Depletion Syndrome 11
Generalized amyotrophy, Elevated circulating creatine kinase concentration, Proximal amyotrophy, ... OMIM:615084
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:254210
Adrenal Hypoplasia, Congenital
Muscular dystrophy, Hyponatremia OMIM:300200
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Abnormal mitochondria in muscle tissue, Increased intramyocellular lipid dro... OMIM:252011
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Axial dystonia, Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Dpm1-Cdg
Knee flexion contracture, Camptodactyly, Elevated circulating creatine kinase concentration, Musc... ORPHA:79322
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent ductus arteriosus, Increased variability in muscle fiber diameter, Flexion contracture, Mu... OMIM:616866
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the calf musculature, Shoulder girdle muscle weakness, Mildly elevated creatine ki... ORPHA:600
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Hypertriglyceri... ORPHA:2348
X-Linked Emery-Dreifuss Muscular Dystrophy
Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture, Proximal lowe... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture, Proximal lowe... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture, Proximal lowe... ORPHA:98853
Dk1-Cdg
Progressive muscle weakness ORPHA:91131
Pparg-Related Familial Partial Lipodystrophy
Hyperuricemia, Abnormality of skeletal muscle fiber size, Calf muscle pseudohypertrophy, Myopathy... ORPHA:79083
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Myasthenia, Limb-Girdle, Autoimmune
Proximal amyotrophy, Hashimoto thyroiditis, Type 2 muscle fiber atrophy, Mildly elevated creatine... OMIM:159400
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Knee flexion contracture, Increased variability in muscle fiber diameter, Elbow flexion contractu... OMIM:619461
Spastic Paraplegia Type 7
Upper limb muscle weakness, Ragged-red muscle fibers, Lower limb muscle weakness, Lower limb hype... ORPHA:99013
Congenital Myopathy 2A, Typical, Autosomal Dominant
Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Nemaline bodies, Limb muscle weak... OMIM:161800
Postsynaptic Congenital Myasthenic Syndromes
Weakness of long finger extensor muscles, Abnormality of masticatory muscle, Triceps weakness, We... ORPHA:98913
Walker-Warburg Syndrome
Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atroph... ORPHA:899
Coenzyme Q10 Deficiency, Primary, 1
Progressive muscle weakness, Decreased level of coenzyme Q10 in skeletal muscle, Ragged-red muscl... OMIM:607426
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Limb-girdle muscle weakness, Rhabdomyolysis, Progressive muscle weakness, Muscle weakness, Skelet... ORPHA:370
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Myopathy, Left ventricular hypertrophy, Ragged-red muscle fibers OMIM:540000
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Limb dystonia, Choreoathetosis, Type 1 muscle fiber predominance, Type 2 muscle ... ORPHA:319514
Glycogen Storage Disease Xii
Reduced haptoglobin level, Muscle fiber splitting, Increased variability in muscle fiber diameter... OMIM:611881
Behçet Disease
Endocarditis, Recurrent aphthous stomatitis, Arthritis, Keratoconjunctivitis sicca, Myositis, Per... ORPHA:117
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Generalized amyotrophy, Elevated circulating creatine kinase concentration, Weakness of facial mu... ORPHA:352447
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Gowers sign, Shoulder girdle muscle weakness, Progressive d... ORPHA:98908
Triosephosphate Isomerase Deficiency
Progressive muscle weakness, Muscle weakness, Myopathy, Skeletal muscle atrophy, Respiratory insu... OMIM:615512
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Limb-girdle muscle weakness, Rhabdomyolysis, Pelvic girdle muscle weakness, Progressive muscle we... ORPHA:79240
Glycogen Storage Disease Xv
Scapular winging, Type 1 muscle fiber predominance OMIM:613507
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Chronic otitis media, Right ventricular hypertrop... OMIM:612949
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers OMIM:613662
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Elevated circulating creatine kinase concentration, Type 1 fibers relatively smaller than type 2 ... OMIM:619424
Optic Atrophy 11
Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping, Mildly elev... OMIM:617302
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Distal lower limb amyotrophy, Thenar muscle atrophy, Distal lower lim... OMIM:500013
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness, Elevated circulati... OMIM:616479
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Muscular dystrophy ORPHA:300751
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Myopathy, Increased serum pyruvate OMIM:604377
Juvenile Amyotrophic Lateral Sclerosis
Retrocollis, Lower-limb joint contracture, Muscle fiber atrophy, Opisthotonus, Axial dystonia, Sk... ORPHA:300605
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand OMIM:175700
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets, EMG: m... ORPHA:502423
Aapoaiv Amyloidosis
Cardiac amyloidosis, Renal amyloidosis, Renal interstitial amyloid deposits, Cutaneous amyloidosis ORPHA:439232
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Chronic active hepatitis, Erythema nodosum, Arthritis, Thyroiditis,... ORPHA:289390
Epidermolysis Bullosa Simplex With Pyloric Atresia
Muscular dystrophy, Flexion contracture, Elevated circulating creatine kinase concentration ORPHA:158684
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy OMIM:616720
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter OMIM:615595
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Increased serum pyruvate ORPHA:1349
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Distal amyotrophy, Athetosis, Fiber type grouping OMIM:271245
Combined Oxidative Phosphorylation Deficiency 24
Elevated circulating creatine kinase concentration, Weakness of facial musculature, Myopathy, Ske... OMIM:616239
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:614643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Flexion contracture, Calf muscle hypertrophy, Congenital muscular dystrophy, Elevated circulating... OMIM:253800
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Progressive muscle weakness, Skeletal muscle atrophy, Increased sarcoplasmic glycogen ORPHA:264580
Aicardi-Goutières Syndrome
Multiple joint contractures, Arthritis, Chilblains, Myositis, Panniculitis ORPHA:51
Myopathy, Mitochondrial, And Ataxia
Distal amyotrophy, Increased variability in muscle fiber diameter, Elevated circulating creatine ... OMIM:617675
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Skeletal muscle atrophy, Facial palsy ORPHA:3068
Native American Myopathy
Muscle fiber atrophy, Abnormality of skeletal muscle fiber size, Camptodactyly, Skeletal muscle a... ORPHA:168572
Oculopharyngodistal Myopathy 1
Increased variability in muscle fiber diameter, Autophagic vacuoles, EMG: myopathic abnormalities... OMIM:164310
Danon Disease
Generalized amyotrophy, EMG: myopathic abnormalities, Elevated circulating creatine kinase concen... OMIM:300257
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Thyroiditis, Keratoconjunctivitis sicca, Myositis, Abnormality of t... ORPHA:79078
Tbck-Related Intellectual Disability Syndrome
Progressive muscle weakness, Diastasis recti, Skeletal muscle atrophy, Macroglossia ORPHA:488632
Neu-Laxova Syndrome
Flexion contracture, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, S... ORPHA:2671
Severe Congenital Nemaline Myopathy
Flexion contracture, Type 1 muscle fiber predominance, Facial diplegia, Nemaline bodies, Skeletal... ORPHA:171430
Overlap Myositis
Abnormal circulating lipid concentration, Perifascicular muscle fiber atrophy, Rheumatoid arthrit... ORPHA:206572
Glycogen Storage Disease Due To Acid Maltase Deficiency
Generalized muscle weakness, Flexion contracture, Fatigable weakness of respiratory muscles, Lowe... ORPHA:365
Neutral Lipid Storage Disease With Ichthyosis
Increased intramyocellular lipid droplets, EMG: myopathic abnormalities, Myopathy, Progressive pr... ORPHA:98907
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Ragged-red muscle fibers, Facial palsy OMIM:606407
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis ORPHA:98849
Polymyositis
Pericarditis, Arthritis, Abnormal muscle fiber morphology, Elevated circulating creatine kinase c... ORPHA:732
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Progressive muscle weakness, Distal muscle weakness, Skeletal muscle atrophy OMIM:256810
Primary Triglyceride Deposit Cardiomyovasculopathy
Skeletal myopathy, Inflammatory abnormality of the skin, Abnormality of the calf musculature, Abn... ORPHA:565612
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Snakebite Envenomation
Hyponatremia, Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Familial Mediterranean Fever
Renal amyloidosis, Amyloidosis OMIM:249100
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Muscle fiber necros... OMIM:618733
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hyperalaninemia, Decreased muscle mass, Foot dorsiflexor weakness, Abnormality of the extraocular... ORPHA:298
Q Fever
Amyloidosis ORPHA:781
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Torticollis, Macroglossia OMIM:617022
Marden-Walker Syndrome
Camptodactyly of finger, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur... ORPHA:2461
Primary Sclerosing Cholangitis
Amyloidosis, Generalized amyotrophy ORPHA:171
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis OMIM:301220
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber predominance, Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Conge... OMIM:619036
Tetrasomy 9P
Myositis, Arthritis, Pericarditis ORPHA:3310
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:615287
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Rhabdomyosarcoma ORPHA:1052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Elevated circulating creatine kinase concentration, Congenital muscular dystrophy, Congenital con... OMIM:236670
Myotonic Dystrophy 2
Weakness of facial musculature, Sternocleidomastoid amyotrophy, Type 2 muscle fiber atrophy, Gene... OMIM:602668
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Increased variability in muscle fiber diameter, Flexion contracture, Rh... ORPHA:17
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Rhabdomyolysis, Lower limb muscle weakness, Transient hypophosphatemia, Abn... ORPHA:79102
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:253280
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Ragged-red muscle fibers OMIM:614924
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, Muscle fiber atrophy, EMG: myopathic abnormalities, Distal lower lim... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, Muscle fiber atrophy, EMG: myopathic abnormalities, Distal lower lim... ORPHA:98914
Multiple Endocrine Neoplasia, Type Iia
Cutaneous lichen amyloidosis OMIM:171400
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Shoulder girdle muscle weakness, Left ventricular hypertrophy, Hypomimic face, EM... ORPHA:254892
Lambert-Eaton Myasthenic Syndrome
Progressive proximal muscle weakness ORPHA:43393
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal amyotrophy, Allodynia, Ragged-red muscle fibers OMIM:603041
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Wrist drop, Muscle fiber atrophy, Elbow flexion contracture, EMG: myopathi... ORPHA:1900
Attrv122I Amyloidosis
Cardiac amyloidosis, Left ventricular hypertrophy, Tendon rupture ORPHA:85451
Multiple Endocrine Neoplasia Type 2
Proximal amyotrophy, Cutaneous lichen amyloidosis ORPHA:653
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis OMIM:134610
Familial Cold Autoinflammatory Syndrome 1
Renal amyloidosis OMIM:120100
Muckle-Wells Syndrome
Renal amyloidosis OMIM:191900
Muckle-Wells Syndrome
Camptodactyly of finger, Renal amyloidosis ORPHA:575
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Lower limb muscle weakness, Calf muscle hypertrophy, Elevated circulating creatine kinase concent... ORPHA:268
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Ragged-red muscle fibers ORPHA:255210
Melas
Abnormal mitochondria in muscle tissue, Myopathy, Ragged-red muscle fibers ORPHA:550
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Ragged-red muscle fibers, Increased intramyocellular lipid droplets OMIM:252010
Choreoacanthocytosis
Peroneal muscle atrophy, Blepharospasm, Muscle fiber atrophy, Resting tremor, Lingual dystonia, L... ORPHA:2388
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Rhabdomyolysis OMIM:124000
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Tendon rupture OMIM:182250
Lysinuric Protein Intolerance
Renal amyloidosis, Hepatic amyloidosis ORPHA:470
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Renal amyloidosis, Foot joint contracture, Flexion contracture ORPHA:79408

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 Dysf

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 Dysf.

No publications found that use IMPC mice or data for Dysf.

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MGI Allele Allele Type Produced
Dysftm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Dysftm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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