Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
myosin, heavy polypeptide 4, skeletal muscle
Synonyms:
MYH-2B,  Minimsc,  MHC2B,  Minmus,  MM,  Myhsf,  MyHC-IIb

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Myh4 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Myh4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... OMIM:158600
Spinal Muscular Atrophy, Type Iv
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... OMIM:271150
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Tibial Muscular Dystrophy
Clumsiness, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps mus... ORPHA:609
Myopathy, Distal, With Rimmed Vacuoles
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... OMIM:617158
Polyglucosan Body Myopathy 2
Peroneal muscle weakness, Hand muscle weakness, Pelvic girdle amyotrophy, Distal muscle weakness,... OMIM:616199
Nonaka Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Gait disturbance, Deposits immu... OMIM:605820
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Z-band streaming, Distal muscle weakness, Rimmed vac... OMIM:618655
Welander Distal Myopathy
Rimmed vacuoles, Steppage gait, Distal amyotrophy OMIM:604454
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Loss of ambulation, Increased endomysial connective tissue, Proximal muscle weakness in lower lim... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... OMIM:618848
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Rimmed vacuoles, Foot do... ORPHA:603
Inclusion Body Myopathy And Brain White Matter Abnormalities
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... OMIM:619733
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... ORPHA:611
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Clumsiness, Flexion contracture, Muscular dystrophy, Scapular winging, Myositis, Lower limb muscl... OMIM:253600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle... OMIM:254110
Neuronopathy, Distal Hereditary Motor, Type Viia
Distal amyotrophy, Tremor, Difficulty walking, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... ORPHA:2593
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... OMIM:601954
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... OMIM:618940
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Quadriceps muscle atrophy, Inability to walk, Tip-toe gait, Proximal muscle weakness in lower lim... ORPHA:482601
Inclusion Body Myositis
Distal muscle weakness, Rimmed vacuoles, Inflammatory myopathy, Proximal muscle weakness OMIM:147421
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Weakness of facial musculature, Proximal muscle weakness, Shoulder girdl... OMIM:619477
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy OMIM:617030
Hereditary Myopathy With Early Respiratory Failure
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... ORPHA:178464
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Scapular winging, Increased variability in muscle fiber ... OMIM:301075
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... OMIM:300717
Myopathy, Myofibrillar, 5
Waddling gait, Myofibrillar myopathy, Muscle fiber splitting, Muscle fiber cytoplasmatic inclusio... OMIM:609524
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Gait dis... ORPHA:1878
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Distal lower limb muscle weakness, Paralysis OMIM:608634
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn... OMIM:608423
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Pelvic girdle muscle weakness, Proximal upper limb amyotrophy, Proximal lower li... OMIM:609115
Nemaline Myopathy 6
Gait disturbance, Nemaline bodies, Limb muscle weakness, Myopathy OMIM:609273
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscle fiber atrophy, Rimmed vacuoles, Myositis, Centrally nucleated skeletal muscle fibers, Skel... OMIM:615422
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Proximal muscle weakness, Achilles tendon contracture, ... OMIM:609200
Vacuolar Neuromyopathy
Muscular dystrophy, Rimmed vacuoles, Foot dorsiflexor weakness, Muscle fiber splitting, Shoulder ... OMIM:601846
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles, Steppage gait OMIM:600334
Mitochondrial Myopathy With Diabetes
Ataxia, EMG: myopathic abnormalities, Babinski sign, Weakness of orbicularis oculi muscle, Ragged... OMIM:500002
Neuronopathy, Distal Hereditary Motor, Type Va
First dorsal interossei muscle weakness, Distal muscle weakness, First dorsal interossei muscle a... OMIM:600794
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, Progressive proximal muscle weakness, EMG: myopathic abnormalities, Increased va... ORPHA:399058
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal muscle weakness, Increased variability in muscle fiber diameter, Type 1 m... OMIM:619042
Central Core Disease Of Muscle
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... OMIM:117000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased endomysial connective tissue, EMG: myopathic abnormalities, Distal muscle weakness, Inc... ORPHA:266
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower... ORPHA:219
Muscular Dystrophy, Congenital, Merosin-Positive
Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... OMIM:609456
Lower Motor Neuron Syndrome With Late-Adult Onset
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... ORPHA:276435
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Loss of ambulation, Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in m... ORPHA:34516
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder... OMIM:613530
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Proximal Myopathy With Extrapyramidal Signs
Progressive extrapyramidal muscular rigidity, Ataxia, Resting tremor, Increased variability in mu... ORPHA:401768
Myopathy, Congenital Proximal, With Minicore Lesions
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Tongue fasciculations, Fat... OMIM:618823
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu... OMIM:611615
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle weakness, Hand muscle atrophy, Foot dorsiflexor weakness, Distal amyotrophy, Gait dis... OMIM:616280
Charcot-Marie-Tooth Disease, Axonal, Type 2D
First dorsal interossei muscle weakness, Distal muscle weakness, First dorsal interossei muscle a... OMIM:601472
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Loss of ambulation, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in mu... OMIM:253601
Miyoshi Muscular Dystrophy 1
Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Distal amyotrophy, Deposits immunor... OMIM:254130
Amyotrophic Lateral Sclerosis Type 4
Abnormal pyramidal sign, Babinski sign, Spastic paraplegia, Gait disturbance, Skeletal muscle atr... ORPHA:357043
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Skeletal muscle atrophy, Muscle weakness, Foot dorsiflexor weakness, Spinal muscular atrophy OMIM:614881
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy, Neck flexor weak... OMIM:616209
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Calf muscle pseudohypertrophy, ... ORPHA:280333
Myopathy, Centronuclear, 1
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Facial palsy, Pro... OMIM:160150
Spastic Paraplegia 62, Autosomal Recessive
Tip-toe gait, Babinski sign, Difficulty walking, Spasticity, Clonus, Spastic gait, Lower limb spa... OMIM:615681
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Type 1 muscle fiber predominanc... ORPHA:178145
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Neck flexor weakness, In... ORPHA:457050
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
Spastic Paraplegia 43, Autosomal Recessive
Babinski sign, Distal amyotrophy, Spastic paraplegia, Gait disturbance, Spasticity, Knee flexion ... OMIM:615043
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... OMIM:613204
Myopathy, Myofibrillar, 2
Late-onset proximal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdl... OMIM:608810
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Clumsiness, Joint contracture of ... ORPHA:399086
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Finger flexor weakness, Progressive proximal muscle weakness, Limb... ORPHA:178400
Myofibrillar Myopathy 11
Gowers sign, Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased v... OMIM:619178
Hereditary Continuous Muscle Fiber Activity
Ataxia, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance, Spastic gait, Slurred ... ORPHA:972
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Gowers sign, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle weakness, Pr... OMIM:612937
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Abdominal wall muscle weakness, Muscle fiber splitting, Proximal muscle weakness, Scapular wingin... OMIM:618129
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, Gowers sign, EMG: myopathic abnormalities, R... ORPHA:97240
Distal Nebulin Myopathy
Slender build, Nemaline bodies, Progressive proximal muscle weakness, EMG: myopathic abnormalitie... ORPHA:399103
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Progressive external ophthalmoplegia, Ragged-red musc... OMIM:609283
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Muscle weakness, Central core regions in muscle fibers OMIM:159050
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... ORPHA:86812
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Babinski ... OMIM:616924
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Facial ... OMIM:607641
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Muscle weakness,... OMIM:617072
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Distal muscle weakness, Calf muscle hypertrophy, Rimmed vacuoles, Proximal muscle weakness, Skele... OMIM:617760
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal muscle weakness, Skeletal muscle atrophy, Muscle weakness, Distal amyotrophy OMIM:614369
Bethlem Myopathy 2
Flexion contracture, Increased variability in muscle fiber diameter, Muscle weakness, Proximal mu... OMIM:616471
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Loss of ambulation, Muscular dystrophy, Increased variability in muscle fi... OMIM:616812
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis ORPHA:565899
Myopathy, Distal, 3
Clumsiness, Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimm... OMIM:610099
Multiminicore Myopathy
Respiratory insufficiency due to muscle weakness, Failure to thrive, Abnormal muscle fiber morpho... ORPHA:598
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Proximal muscle weakness, Skeletal muscle hypertrophy, EMG: myopathic abn... OMIM:300696
Merrf
Ragged-red muscle fibers, Ataxia, Myopathy ORPHA:551
Spastic Paraplegia 63, Autosomal Recessive
Hypertonia, Babinski sign, Spastic paraplegia, Gait disturbance, Scissor gait, Clonus, Skeletal m... OMIM:615686
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Diaphragmatic weakness, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... OMIM:603689
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Myoclonus, Ragged-red muscle fibers, Spasticity, Myopathy OMIM:545000
Myositis
Myositis OMIM:160750
Pleoconial Myopathy With Salt Craving
Paralysis, Myopathy, Proximal amyotrophy OMIM:262900
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Myopathy, Proximal, With Ophthalmoplegia
Distal muscle weakness, Muscle fiber inclusion bodies, Proximal muscle weakness, Neck muscle weak... OMIM:605637
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ophthalmop... ORPHA:270
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... OMIM:300718
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Distal upper limb muscle weakness, Skeletal muscle hypertrophy, Proximal muscle weakness in lower... OMIM:619566
Nemaline Myopathy 2
Weakness of facial musculature, Increased variability in muscle fiber diameter, Neck flexor weakn... OMIM:256030
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dysmetria, Dysdiadochokinesis, Fiber type grouping, Interosseus muscle atrophy, Thenar muscle atr... OMIM:619903
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy, Muscle weakness OMIM:612539
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Increased endomysial connective tissue, Scapular winging, Increased variability in muscle fiber d... ORPHA:437572
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Neuropathy, Painful
Skeletal muscle atrophy, Lower limb muscle weakness OMIM:256870
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy, Respiratory paralysis OMIM:158650
Striatonigral Degeneration, Infantile, Mitochondrial
Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Ragged-red muscle fibers, Difficult... OMIM:500003
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Ankle clonus, Increased variability in muscle fiber diam... OMIM:613954
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:611705
Distal Myotilinopathy
Multiple joint contractures, EMG: myopathic abnormalities, Loss of ability to walk in first decad... ORPHA:98911
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... OMIM:160565
Glycogen Storage Disease Ixd
Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosis, Increased muscle glycogen... OMIM:300559
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Decreased body weight, Type 1 fibers relatively... OMIM:300580
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal lower limb muscle weakness, Paralysis OMIM:158590
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Inability to walk, Weakness of facial musculature, Type 1 fibers... ORPHA:596
Nemaline Myopathy 1
Facial diplegia, Nemaline bodies, Proximal muscle weakness, Flexion contracture, EMG: myopathic a... OMIM:609284
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Proximal muscle weakness, Toe extensor amyotrophy, Rimmed vacuol... OMIM:160500
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Inc... OMIM:500009
Myopathy, Distal, 4
Proximal muscle weakness, Abnormality of the calf musculature, Muscle weakness, Distal upper limb... OMIM:614065
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Loss of ambulation, Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscl... OMIM:603511
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Gowers sign, Flexion contracture, Type 1 muscle fiber predomina... OMIM:609285
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Skin rash, Proximal muscle weakness in lower limbs, EMG: myopathic abnorma... ORPHA:206569
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Skeletal muscle atrophy, Paralysis OMIM:613710
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Spastic diplegia, Myoclonus, Increased variability in muscle fiber diameter, Babinski sig... OMIM:619065
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Loss of ambulation, Increased endomysial connective tissue, Flexion contra... OMIM:253700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Limb-girdle muscle weakness, Difficu... OMIM:613818
Myopathy, Myofibrillar, 4
Progressive proximal muscle weakness, EMG: myopathic abnormalities, Myofibrillar myopathy, Progre... OMIM:609452
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Fasciculations, Internally nucleated skeletal muscle ... ORPHA:324581
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Skeletal muscle atrophy, Muscle weakness, Respiratory insufficiency due... OMIM:300816
Oculopharyngodistal Myopathy 3
Ataxia, Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weak... OMIM:619473
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... OMIM:616816
Rigid Spine Muscular Dystrophy 1
Loss of ambulation, Increased endomysial connective tissue, Flexion contracture, Muscular dystrop... OMIM:602771
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Gowers sign, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs... OMIM:618138
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Broad-based gait, Increased endomysial connective tissue, Macroglossia, Right ventricular hypertr... ORPHA:353
Adult-Onset Nemaline Myopathy
Nemaline bodies, Bradykinesia, Flexion contracture, EMG: myopathic abnormalities, Increased varia... ORPHA:171442
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Macroglossia, Calf muscle hypertrophy, Muscle weakness, ... OMIM:616052
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Fasciculations, Foot dorsiflexor weakness, Polyminimyoclonus, Trem... OMIM:619574
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Congenital Myopathy With Myasthenic-Like Onset
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Failure to thrive,... ORPHA:424107
Myasthenic Syndrome, Congenital, 14
Gowers sign, Flexion contracture, Limb-girdle muscle weakness, Fatigable weakness, Ragged-red mus... OMIM:616228
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Distal amyotrophy, Gait ataxia, Pa... OMIM:606183
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Gowers sign, Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hyp... OMIM:613157
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Distal muscle weakness, Progressive external ophthalmoplegia, Ragged-red muscle fibers, Proximal ... OMIM:617070
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Broad-based gait, Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic... ORPHA:119
Bethlem Myopathy 1
Torticollis, Respiratory insufficiency due to muscle weakness, Proximal muscle weakness, Distal m... OMIM:158810
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive proximal muscle weakness, Progressive external ophthalmoplegia, Ragged-red muscle fib... ORPHA:663
Oculopharyngodistal Myopathy 4
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... OMIM:619790
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal muscle weakness, Spinal muscular atrophy, Distal amyotrophy, Proximal muscle weakness, Pro... OMIM:182980
Nemaline Myopathy 7
Nemaline bodies, Gowers sign, Weakness of facial musculature, Minicore myopathy, Fatty replacemen... OMIM:610687
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Muscl... OMIM:607855
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Loss of ambulation, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelv... OMIM:167320
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Scapuloperoneal weakness, Foot dorsiflexor weakness, Shoulder girdle mus... OMIM:181400
Severe X-Linked Mitochondrial Encephalomyopathy
Generalized muscle weakness, Increased variability in muscle fiber diameter, Skeletal muscle atrophy ORPHA:238329
Myopathy, Myosin Storage, Autosomal Recessive
Loss of ambulation, EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle wea... OMIM:255160
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Diaphragmatic weakness, Poor head control, Failure to thrive, EMG: myopath... OMIM:614399
Marinesco-Sjogren Syndrome
Ataxia, Flexion contracture, Limb ataxia, Rimmed vacuoles, Gait ataxia, Spasticity, Centrally nuc... OMIM:248800
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Musc... ORPHA:263494
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy, Muscle weakness ORPHA:85162
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Intrinsic hand muscle atrophy, Diaphragmatic weakness, Type 2 muscle fiber atrophy, Hand muscle a... OMIM:601462
Focal Myositis
Myositis ORPHA:48918
Amish Nemaline Myopathy
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Progressive musc... ORPHA:98902
Myopathy, Congenital, With Fiber-Type Disproportion
Failure to thrive, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Proximal mu... OMIM:255310
Minicore Myopathy With External Ophthalmoplegia
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... OMIM:255320
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... OMIM:618484
Myopathy, Centronuclear, 2
Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Waddling gait,... OMIM:255200
Nemaline Myopathy 5
Hip contracture, Nemaline bodies, Z-band streaming, Type 1 muscle fiber predominance, Tremor, Sho... OMIM:605355
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Myopathy, Spheroid Body
Distal muscle weakness, Neck flexor weakness, Muscle weakness, Proximal muscle weakness, Skeletal... OMIM:182920
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Dysmetria, Myoclonus, Lower limb spasticity, Tremor, Type 2 muscle fiber predominance, Im... OMIM:619028
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Skeletal muscle autophagosome accumulation, Rimmed vacuoles, Loss of ambulation, Centrally nuclea... OMIM:619518
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Diaphragmatic weakness, Interosseus muscle atrophy, Spinal muscular atrophy, Distal amyotrophy, D... OMIM:607088
Scapuloperoneal Myopathy, X-Linked Dominant
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Foot dorsiflexor weakness, ... OMIM:300695
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Diaphragmatic weakness, Increased endomysial connective tissue, Abnormal muscle fibe... ORPHA:75840
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Respiratory insufficiency due to muscle weakness, Slender build... ORPHA:171439
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Pustule, Myositis, Arthritis, Increased inflammatory response, Acne ORPHA:69126
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Poor head control, Flexion contracture, Distal muscle weakness, Generalized weakness... ORPHA:353327
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Loss of ambulation, Hypoglycosylation of alpha-dystroglycan, Macroglossia, Proximal muscle weakne... ORPHA:352479
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Distal muscle weakness, Upper limb muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy OMIM:607678
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Respiratory paralysis, Periodic hypokalemic paresis, Increased ... ORPHA:681
Kearns-Sayre Syndrome
Hemiplegia/hemiparesis, Ragged-red muscle fibers, Ataxia, Skeletal muscle atrophy ORPHA:480
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Gowers sign, Type 2 muscle fiber atrophy, Ophthalmoparesis, Arthrogryposis multiplex congenita, G... OMIM:608930
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... ORPHA:486815
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Myopathy, Distal, With Anterior Tibial Onset
Distal muscle weakness, Myopathy, Distal amyotrophy OMIM:606768
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... ORPHA:98905
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... ORPHA:169186
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Inability to walk, Type 1 muscle fiber predominance, Tetraparesis, Spasticity, Tongue fas... OMIM:618276
Idiopathic Camptocormia
EMG: myopathic abnormalities, Osteoarthritis, Abnormal inflammatory response, Myelitis, Abnormal ... ORPHA:1320
Myasthenic Syndrome, Congenital, 5
Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Fatigable weakness... OMIM:603034
Nemaline Myopathy 8
Nemaline bodies, Flexion contracture, Myofibrillar myopathy, Ophthalmoparesis, Muscle weakness, F... OMIM:615348
Nemaline Myopathy 3
Slender build, Nemaline bodies, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, N... OMIM:161800
Eosinophilic Fasciitis
Muscular edema, Fasciitis, Myositis, Arthritis ORPHA:3165
Nemaline Myopathy 10
Bulbar palsy, Flexion contracture, Muscle weakness, Arthrogryposis multiplex congenita, Facial pa... OMIM:616165
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abnormalities, A... ORPHA:169189
Lethal Congenital Contracture Syndrome 7
Facial diplegia, Paralysis, Knee flexion contracture, Arthrogryposis multiplex congenita, Skeleta... OMIM:616286
Spinocerebellar Ataxia 28
Limb ataxia, Babinski sign, Parkinsonism, Ragged-red muscle fibers, Gait ataxia, Spasticity, Lowe... OMIM:610246
Bethlem Myopathy
Multiple joint contractures, Quadriceps muscle weakness, Achilles tendon contracture, Flexion con... ORPHA:610
Genetic Recurrent Myoglobinuria
Type 2 muscle fiber atrophy, Myositis, Lower limb muscle weakness, Abnormality of jaw muscles, Vi... ORPHA:99845
Autosomal Dominant Spastic Paraplegia Type 3
Bradykinesia, Lower limb hypertonia, Tip-toe gait, Ankle clonus, Babinski sign, Rigidity, Lower l... ORPHA:100984
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Reduced muscle fiber alpha dystroglycan, Tip-toe gait, EMG: myopathic abnormalit... ORPHA:370980
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... OMIM:616470
Myopathy, Myofibrillar, 8
Nemaline bodies, Scapular winging, Joint contracture of the 5th finger, Frequent falls, Limb musc... OMIM:617258
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Distal muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Proximal muscle weaknes... OMIM:608807
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Increased variability in muscle fiber diameter, Gait disturbance, Spasticity, Myopathy OMIM:125250
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Gowers sign, Type 2 muscle fiber atrophy, Fatigable weakness, Ophthalmoparesis, Arthrogryposis mu... OMIM:608931
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Inability to walk, Calf muscle hypertrophy, Scapular win... ORPHA:206559
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Muscular dystrophy, Truncal ataxia, Chorea, Difficulty walking, Waddling ga... ORPHA:369840
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... ORPHA:397744
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Gowers sign, Flexion contracture, Muscular dystrophy, Proximal muscle weakness, Generalized muscl... OMIM:613723
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Progressive external ophthalmoplegia, Ragged-red muscle fibers, Weight l... OMIM:613662
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Proximal muscle weakness, Abnormal muscle fiber morphology, Weakness of facial m... ORPHA:1145
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Gowers sign, Scapular winging, Type 1 muscle fiber predominance, Muscle weakness... OMIM:617336
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Failure to thrive, Myopathy OMIM:618246
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Flexion contracture, Panniculitis OMIM:619183
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... OMIM:604286
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Myopathy, Myofibrillar, 7
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... OMIM:617114
Amyotrophic Lateral Sclerosis 21
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder g... OMIM:606070
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis, Myopathy OMIM:613345
Central Core Disease
Multiple joint contractures, Nemaline bodies, Central core regions in muscle fibers, Respiratory ... ORPHA:597
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Arthrogryposis-like hand anomaly, Distal muscle weakness, Diaphragmatic eventration, Foot dorsifl... OMIM:620011
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Flexion contracture, Distal muscle weakness, Foot dorsiflexor weakness, Distal a... OMIM:607684
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Muscle fiber necrosis, Respiratory insufficiency due to muscle weakness, Slender bui... OMIM:254090
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Fatigable weakness... OMIM:605809
Postsynaptic Congenital Myasthenic Syndromes
Fatigable weakness of neck muscles, Triceps weakness, EMG: myopathic abnormalities, Facial palsy,... ORPHA:98913
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Facial diplegia, Respiratory insufficiency due to muscle weakness, Gowers sign, EMG: myopathic ab... OMIM:609560
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Muscle weakness OMIM:616794
Adult-Onset Distal Myopathy Due To Vcp Mutation
Facial diplegia, Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Pa... ORPHA:329478
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Muscle weakness, Spinal muscular atrophy OMIM:253550
Cap Myopathy
Gowers sign, Abnormal muscle fiber morphology, Poor head control, Increased variability in muscle... ORPHA:171881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Inability to walk, Hypoglycosylation of alpha-dystroglycan, Ataxia OMIM:615350
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Fatigable weakness, Ophthalmoparesis, Arthrogryposis multiplex conge... OMIM:254210
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Inflammatory ... OMIM:123320
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Mus... OMIM:616867
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Neck muscle weakness, Muscular dystrophy, Proximal muscle weakness, Proximal amyotrophy OMIM:612998
Muscular Dystrophy, Scapulohumeral
Muscle weakness, Scapulohumeral muscular dystrophy OMIM:600416
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy, Muscle weakness OMIM:254100
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Scapular muscle atrophy, Amyoplasia, Peroneal muscle weakness, Diaphragmatic weaknes... OMIM:181405
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Loss of ambulation, Decreased cervical spine flexion due to contractures of posterior cervical mu... OMIM:310300
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle glycogen content, Macroglossia, Ragged-red muscle fibers, Increased muscle lipid... ORPHA:254864
Intermediate Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... ORPHA:171433
King-Denborough Syndrome
Muscle fiber atrophy, Weakness of facial musculature, Minicore myopathy, Type 1 muscle fiber pred... OMIM:619542
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Optic neuritis, Ataxia, Parkinsonism with favorable r... ORPHA:254886
Classic Multiminicore Myopathy
Multiple joint contractures, Failure to thrive, Muscle fiber atrophy, Poor head control, Right ve... ORPHA:324604
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Flexion contracture OMIM:615368
Pyoderma Gangrenosum
Pustule, Rheumatoid arthritis, Myositis, Inflammation of the large intestine ORPHA:48104
Distal Anoctaminopathy
Progressive proximal muscle weakness, Calf muscle pseudohypertrophy, Distal amyotrophy, Progressi... ORPHA:399096
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Motheaten muscle fibers, Keratitis, Muscular dystrophy, Increased variability in muscle fiber dia... OMIM:226670
Periodic Fever, Familial, Autosomal Dominant
Oligoarthritis, Skin rash, Maculopapular exanthema, Erysipelas, Myositis, Conjunctivitis OMIM:142680
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Akinesia, Increased variability in muscle fiber diameter, Arthrogryposis multipl... OMIM:619334
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Fasciculations, Proximal amyotrophy OMIM:608030
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Muscle fiber necrosis, Ataxia, Dysmetria, Weakness of facial musculature, Scapu... OMIM:607459
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Proximal muscle weakness, Failure to thrive, Joint contracture of th... ORPHA:536516
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Skeletal muscle atrophy, Difficulty walking, Limb muscle weakness, Vocal cord paresis OMIM:614895
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Muscle weakness, Proximal muscle wea... OMIM:615352
Spinocerebellar Ataxia Type 3
Clumsiness, Progressive cerebellar ataxia, Abnormal pyramidal sign, Vocal cord paralysis, Skeleta... ORPHA:98757
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Poor head control, Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, Facial palsy, Distal... OMIM:617519
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Muscle fiber atrophy, Bradykinesia, Limb ataxia, Intention tremor, Weaknes... OMIM:258450
Typical Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diam... ORPHA:171436
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Distal muscle weakness, Skeletal muscle atrophy OMIM:205250
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paralysis ORPHA:90064
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the extraocular muscles, Abnormalit... ORPHA:600
Graft Versus Host Disease
Inflammatory abnormality of the skin, Dupuytren contracture, Maculopapular exanthema, Chronic hep... ORPHA:39812
Spastic Paraplegia Type 7
Babinski sign, Abnormal pyramidal sign, Lower limb muscle weakness, Ragged-red muscle fibers, Low... ORPHA:99013
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand muscle weakness, Inability to walk by childhood/adolescence, Poor fine motor coordination, F... ORPHA:99947
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peroneal muscle weakness, Hand muscle weakness, Intrinsic hand muscle atrophy, Loss of ambulation... ORPHA:101097
Isaacs Syndrome
Calf muscle hypertrophy, Weight loss, Muscle weakness ORPHA:84142
Whipple Disease
Ataxia, Myoclonus, Abnormal pyramidal sign, Myositis, Myocarditis, Arthritis, Uveitis, Infectious... ORPHA:3452
Spastic Paraplegia 39, Autosomal Recessive
Ataxia, Babinski sign, Distal amyotrophy, Gait disturbance, Progressive spastic paraplegia, Dista... OMIM:612020
Glycogen Storage Disease Due To Aldolase A Deficiency
Muscle fiber atrophy, EMG: myopathic abnormalities, Exercise-induced rhabdomyolysis, Skeletal myo... ORPHA:57
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Muscle fiber necrosis, Parkinsonism with favorable response to dopaminergic medication, Bradykine... OMIM:157640
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Increased endomysial connective tissue, Flexion contracture, Minicore myopathy, Axial muscle weak... ORPHA:178148
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hand muscle weakness, Vocal cord paralysis OMIM:162500
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Flexion contracture, Left ventricular noncompaction, Myoclonus, Babinski sign, Truncal at... OMIM:252011
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness, Paralysis OMIM:612300
Oculopharyngodistal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of orbicularis oris muscle, Distal low... ORPHA:98897
Glut1 Deficiency Syndrome 1
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis OMIM:606777
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Inability to walk, Macroglossia, Flexion contracture, Absent muscle fiber m... ORPHA:258
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Flexion contracture, Proximal muscle weakness in lower limbs, Distal amyotrophy, Vocal cord pares... OMIM:607706
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Hemiplegia/hemiparesis, Skin rash, Endocarditis, Myositis, Myocarditis, Arthritis, Gai... ORPHA:183
Sting-Associated Vasculopathy, Infantile-Onset
Pustule, Skin rash, Myositis, Pustular rash, Malar rash, Skeletal muscle atrophy OMIM:615934
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Spastic paraparesis, Babinski sign, Fiber type grouping, Interosseus muscle atrophy, Difficulty w... OMIM:500013
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Failure to thrive, Weakness of facial musculature, Increased variability in muscle fiber diameter... OMIM:619461
X-Linked Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98853
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
EMG: myopathic abnormalities, Left ventricular hypertrophy, Ragged-red muscle fibers, Muscle weak... OMIM:615418
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy, Muscle weakness OMIM:254950
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Loss of ambulation, Blepharospasm, Freezing of gait, Spastic dysarthria... ORPHA:240094
Charcot-Marie-Tooth Disease Type 4A
Hand muscle weakness, Poor gross motor coordination, Inability to walk, Joint contracture of the ... ORPHA:99948
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Limb muscle weakness OMIM:606842
Juvenile Amyotrophic Lateral Sclerosis
Hypertonia, Ataxia, Muscle fiber atrophy, Lower-limb joint contracture, Inability to walk, Upper-... ORPHA:300605
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... ORPHA:71277
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Muscle weakness, Myopathy OMIM:615511
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Absent muscle... ORPHA:98855
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Weakness of muscles of respiration, EMG: myopathic abnormalities, Rimmed vacuoles, Increased vari... ORPHA:52430
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Flexion contracture, Skin rash, Myositis, Arthritis, Conjunctivitis, Panniculitis OMIM:617591
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Upper limb postural tremor, Involuntary movements, Tetraparesis ORPHA:477774
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Inability to walk, Decreased muscle mass, Knee flexion contracture, Vocal cord ... OMIM:615490
Antisynthetase Syndrome
Skin rash, Keratoconjunctivitis sicca, Myositis, Myocarditis ORPHA:81
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Poor head control, Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrop... OMIM:615351
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
External ophthalmoplegia, Increased variability in muscle fiber diameter, Failure to thrive in in... OMIM:619026
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis, Myopathy OMIM:170400
Pediatric Systemic Lupus Erythematosus
Hemiplegia, Discoid lupus rash, Nephritis, Skin rash, Myositis, Arthritis, Malar rash ORPHA:93552
Congenital Muscular Dystrophy With Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Hypoglycosylation of alpha-... ORPHA:370968
Bacterial Toxic-Shock Syndrome
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Myositis, Myocarditi... ORPHA:36234
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Paralysis OMIM:605285
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Failure to thrive, Ophthalmoplegia OMIM:614924
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Failure to thrive, Poor head control, Type 2 muscle fiber atrophy, Type 1 muscle... ORPHA:319514
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Di... OMIM:164310
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Ataxia, Myoclonus, Parkinsonism, Deposits immunoreactive to beta-amyloid protein, Apr... ORPHA:1020
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Muscle weakness ORPHA:371
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Muscle weakness OMIM:614808
Mixed Connective Tissue Disease
Gastritis, Skin rash, Myositis, Myocarditis, Arthritis, Keratoconjunctivitis sicca, Pericarditis ORPHA:809
Myopathy, Mitochondrial, And Ataxia
Ataxia, Inability to walk, Limb ataxia, Dysmetria, Dysdiadochokinesis, Increased variability in m... OMIM:617675
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Myositis, Hashimoto thyroiditis ORPHA:589
Fusariosis
Keratitis, Sinusitis, Osteomyelitis, Maculopapular exanthema, Peritonitis, Myositis, Arthritis, F... ORPHA:228119
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Flexion contracture, Diaphragmatic eventration, Increased variability in mu... OMIM:616866
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy, Ophthalmoplegia OMIM:540000
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Sweet Syndrome
Oligoarthritis, Pustule, Acne inversa, Myositis, Inflammation of the large intestine, Acne, Predo... ORPHA:3243
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Weakness of facial musculature, Progressive ext... ORPHA:352447
Behçet Disease
Ataxia, Optic neuritis, Pancreatitis, Orchitis, Abnormal pyramidal sign, Endocarditis, Myositis, ... ORPHA:117
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Thyroiditis, Eczematoid dermatitis, Gastritis, Colitis, Osteomyelitis, Inflammatory abnormality o... ORPHA:37042
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Gait disturbance, Ragged-red muscle fibers, Ataxia, Slurred speech ORPHA:1349
Pyomyositis
Myositis, Recurrent cutaneous abscess formation ORPHA:764
Thymoma
Glomerulonephritis, Rheumatoid arthritis, Myositis, Ulcerative colitis ORPHA:99867
Microsporidiosis
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Osteomyelitis, Nephritis, Lymphadenitis, Periton... ORPHA:2552
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Skin rash, Peritonitis, Myositis, Erysipelas, Arthritis, Uveitis, Fasciitis, Pericardit... ORPHA:32960
Aicardi-Goutières Syndrome
Multiple joint contractures, Hypertonia, Hemiplegia/hemiparesis, Extrapyramidal muscular rigidity... ORPHA:51
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Muscle fiber atrophy, Muscle weakness, Increased muscle lipid content ORPHA:228302
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in mu... OMIM:613327
Severe Congenital Nemaline Myopathy
Facial diplegia, Nemaline bodies, Flexion contracture, Abnormality of the diaphragm, Type 1 muscl... ORPHA:171430
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Fatigable weakness, Ophthalmoparesis, Proximal amyotrophy OMIM:159400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Progressive external ophthalmoplegia, Progressive muscle weakness, ... OMIM:609286
Snakebite Envenomation
Muscle fiber necrosis, Pseudobulbar paralysis, Respiratory paralysis, Rhabdomyolysis, Paralysis ORPHA:449285
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, Progressive cerebellar ataxia, Dysmetria, EMG: myopathic abnor... ORPHA:502423
Ehlers-Danlos Syndrome, Classic-Like
Proximal muscle weakness, Muscle fiber splitting, Proximal amyotrophy OMIM:606408
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the extraocular muscles, Distal muscle weakness, Cachexia, Ophthalmoparesis, Foot ... ORPHA:298
Horner Syndrome, Congenital
Paralysis OMIM:143000
Porphyria, Acute Hepatic
Paralysis, Respiratory paralysis OMIM:612740
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Poor head contr... OMIM:612949
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis, Rhabdomyolysis OMIM:188580
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy, Ophthalmoparesis ORPHA:3068
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy, Failure to thrive, Muscle weakness OMIM:606407
Hyperkalemic Periodic Paralysis
Hypertonia, Flexion contracture, Skeletal muscle hypertrophy, Cerebral palsy, Periodic hyperkalem... ORPHA:682
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Ophthalmoparesis, Proxi... ORPHA:70595
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Flexion contracture, Muscular dystrophy, Camptodactyly o... ORPHA:272
Juvenile Dermatomyositis
Skin rash, Myositis, Arthritis, Calcinosis, Pericarditis ORPHA:93672
Machado-Joseph Disease Type 1
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Babinski... ORPHA:276238
Machado-Joseph Disease Type 2
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Babinski... ORPHA:276241
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Poor head control, Right ventricular hypertrophy, Type 2 muscle fiber atrop... ORPHA:98915
Native American Myopathy
Muscle fiber atrophy, Abnormality of skeletal muscle fiber size, Camptodactyly, Muscle weakness, ... ORPHA:168572
X-Linked Adrenoleukodystrophy
Paraparesis, Clumsiness, Hemiparesis, Gait disturbance, Leg muscle stiffness, Progressive spastic... ORPHA:43
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Neutral Lipid Storage Myopathy
Hand muscle weakness, Gowers sign, Progressive proximal muscle weakness, Rimmed vacuoles, Pelvic ... ORPHA:98908
Congenital Myasthenic Syndrome
Muscle fiber atrophy, Poor head control, EMG: myopathic abnormalities, Limb-girdle muscle weaknes... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Muscle fiber atrophy, Poor head control, EMG: myopathic abnormalities, Limb-girdle muscle weaknes... ORPHA:98914
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Abnormal muscle fiber morphology, Joint contracture of the hand OMIM:175700
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Myopathy, Abnormality of skeletal mus... ORPHA:79083
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Generalized muscle weakness OMIM:619424
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis OMIM:300857
Primary Sjögren Syndrome
Chronic active hepatitis, Optic neuritis, Lymphocytic interstitial pneumonia, Chronic hepatitis, ... ORPHA:289390
Congenital Fiber-Type Disproportion Myopathy
Flexion contracture of finger, Weakness of facial musculature, Fatigable weakness of bulbar muscl... ORPHA:2020
Poliomyelitis
Paraparesis, Hypoplasia of the musculature, Inability to walk, Abnormal skeletal muscle morpholog... ORPHA:2912
Machado-Joseph Disease Type 3
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Babinski... ORPHA:276244
Laryngeal Abductor Paralysis
Paralysis OMIM:308850
Variegate Porphyria
Paralysis OMIM:176200
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Loss of ambulation, Decreased level of coenzyme Q10 in skeletal muscle, Myoclonus, Right ... OMIM:607426
Polymyositis
Weight loss, Abnormal muscle fiber morphology, Proximal muscle weakness ORPHA:732
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Amyotrophic Lateral Sclerosis
Paralysis, Skeletal muscle atrophy, Spasticity ORPHA:803
Myotonic Dystrophy 2
Type 2 muscle fiber atrophy, Weakness of facial musculature, Neck flexor weakness, Proximal muscl... OMIM:602668
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Muscle weakness, Muscle fiber splitting, Myopathy OMIM:611881
Overlap Myositis
Rheumatoid arthritis, Arthritis, Tetraparesis, Difficulty walking, Perifascicular muscle fiber at... ORPHA:206572
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Muscle weakness, Progressive external ophthalmoplegia OMIM:530000
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Respiratory paralysis, Late-onset proximal muscle weakness, Oph... ORPHA:79102
Primary Angiitis Of The Central Nervous System
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Tetraparesis, Paralysis ORPHA:140989
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Charcot-Marie-Tooth Disease Type 4B2
Hand muscle weakness, Inability to walk, Poor fine motor coordination, Tip-toe gait, Proximal mus... ORPHA:99956
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormality of the extraocular muscles, Myositis, Tubulointerstitial nephritis, Keratoconjunctivi... ORPHA:79078
Paramyotonia Congenita Of Von Eulenburg
EMG: myopathic abnormalities, Facial muscle hypertrophy, Periodic hypokalemic paresis ORPHA:684
Neuromuscular Oculoauditory Syndrome
Muscle fiber necrosis, Poor head control, EMG: myopathic abnormalities, Calf muscle hypertrophy, ... OMIM:618733
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Distal muscle weakness, Cachexia, Ophthalmoparesis, Progressive external ophthalmo... OMIM:603041
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis, Vocal cord paralysis ORPHA:2375
Brown-Vialetto-Van Laere Syndrome 1
Ataxia, Clumsiness, Ankle clonus, Knee clonus, Hand muscle atrophy, Tongue fasciculations, Facial... OMIM:211530
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Ataxia, Quadriceps muscle weakness, Tremor, Cogwheel rigidity, Limb muscle weakn... ORPHA:254892
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Ragged-red muscle fibers, Failure to thrive, Muscle weakness OMIM:124000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in muscle fi... OMIM:613150
Japanese Encephalitis
Hypertonia, Opisthotonus, Respiratory paralysis, Pill-rolling tremor, Myoclonus, Weakness due to ... ORPHA:79139
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Failure to thrive OMIM:613845
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertonia, Flexion contracture, Myoclonus, Increased variability in muscle fiber diameter, Hyper... ORPHA:17
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Conge... OMIM:619036
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Poor head control, Hypoglycosylation of alpha-dystroglycan ORPHA:370997
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Vocal cord paralysis ORPHA:142
Tetrasomy 9P
Pericarditis, Myositis, Arthritis ORPHA:3310
Combined Oxidative Phosphorylation Deficiency 55
Progressive external ophthalmoplegia, Muscle weakness, Proximal muscle weakness, Type 2 muscle fi... OMIM:619743
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Myoclonus, Hashimoto thyroiditis ORPHA:83601
Gm2-Gangliosidosis, Ab Variant
Hypertonia, Exaggerated startle response, Abnormal pyramidal sign, Chorea, Paralysis, Spastic tet... OMIM:272750
Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Abnormality of the shoulder girdle musculature, Abnormality... ORPHA:565612
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, EMG: myopathic abnormalities, Wrist drop, Limb muscle weakness, Elbow flexi... ORPHA:1900
Gitelman Syndrome
Rhabdomyolysis, Ataxia, Paralysis OMIM:263800
Tick-Borne Encephalitis
Myelitis, Hyperkinetic movements, Tongue fasciculations, Tremor, Speech apraxia, Paralysis, Incoo... ORPHA:297
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers, Failure to thrive, Muscle weakness, Ophthalmoparesis ORPHA:255210
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Choreoacanthocytosis
Chorea, Falls, Slurred speech, Hypertonia, Loss of ambulation, Resting tremor, Hyperkinetic movem... ORPHA:2388
Melas
Ataxia, Myoclonus, Hemiparesis, Gait disturbance, Ragged-red muscle fibers, Recurrent pancreatiti... ORPHA:550
Mitochondrial Complex I Deficiency, Nuclear Type 1
Failure to thrive, Poor head control, Increased intramyocellular lipid droplets, Ragged-red muscl... OMIM:252010
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Poor head control, Type 1 muscle fiber predominance, Muscle weakness, Skeletal muscle atrophy, My... OMIM:614557
Glioblastoma
Paralysis ORPHA:360
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Arnold-Chiari Malformation Type I
Progressive cerebellar ataxia, Babinski sign, Gait ataxia, Abnormality of the musculature of the ... ORPHA:268882
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypertonia, Ataxia, Paralysis, Myoclonus OMIM:203700
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Rift Valley Fever
Paraparesis, Skin rash, Decerebrate rigidity, Hemiparesis, Hepatitis, Uveitis, Infectious encepha... ORPHA:319251
Inhalational Botulism
Paralysis ORPHA:254504
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic paralysis, Scapular winging, Periodic hypokalemic paresis OMIM:170390
Porphyria, Acute Intermittent
Paralysis, Respiratory paralysis OMIM:176000
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
African Trypanosomiasis
Keratitis, Akinesia, Optic neuritis, Iritis, Myelitis, Fasciculations, Myocarditis, Hemiparesis, ... ORPHA:3385
Encephalocraniocutaneous Lipomatosis
Hemiplegia, Hypertonia, Rigidity, Hemiparesis, Spasticity, Paralysis, Tetraplegia ORPHA:2396
Andersen-Tawil Syndrome
Periodic paralysis, Periodic hypokalemic paresis, Periodic hyperkalemic paralysis ORPHA:37553
Gitelman Syndrome
Gout, Rhabdomyolysis, Tubulointerstitial nephritis, Paralysis, Hashimoto thyroiditis ORPHA:358
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Hypertonia, Broad-based gait, Limb ataxia, Spastic paraplegia, Paralysis,... ORPHA:2072
Singleton-Merten Syndrome 1
Decreased body weight, Muscle fiber atrophy, Muscle weakness, Tendon rupture OMIM:182250
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Type 1 muscle fiber atrophy, Muscle weakness, Macroglossia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Type 1 muscle fiber atrophy, Muscle weakness, Macroglossia ORPHA:352665
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis OMIM:259730
Pineoblastoma
Paralysis ORPHA:251909
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Tsh-Secreting Pituitary Adenoma
Tremor, Periodic hypokalemic paresis ORPHA:91347

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 Myh4

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 Myh4.

No publications found that use IMPC mice or data for Myh4.

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MGI Allele Allele Type Produced
Myh4tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Myh4tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Myh4tm48299(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Myh4tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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