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Gene: Myh4 MGI:1339713

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

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 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
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Spinal muscular atroph... OMIM:158600
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Steppage gait OMIM:604454
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Falls, F... OMIM:618848
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakness, Proximal muscle weakness OMIM:616231
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Distal Myopathy, Welander Type
Rimmed vacuoles, Difficulty walking, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myo... ORPHA:603
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Lower limb muscle weakness, Difficulty walking, Myositis, Clumsiness, Proxima... OMIM:253600
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Myopathy, Weakness of faci... OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Falls, Generalized li... OMIM:608358
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Tip-toe gait, Inability to w... ORPHA:482601
Myasthenic Syndrome, Congenital, 17
Difficulty walking, Type 1 muscle fiber predominance OMIM:616304
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Paralysis, Difficulty walking OMIM:608634
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Frequent falls OMIM:614807
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Increa... OMIM:618940
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facia... OMIM:619477
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Inclusion Body Myositis
Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness OMIM:147421
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:600794
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Waddl... OMIM:609524
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy... ORPHA:1878
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Difficulty walking, Limb muscle weakness, Ragged-red muscle... OMIM:500002
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Distal amyotrophy, Distal muscle weakness OMIM:614369
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
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
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Shuffling gait, Generalized limb muscle atrophy, Scapular winging, Proximal lower limb amyotrophy... ORPHA:219
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Tongue fasciculations, Z-band stre... OMIM:618823
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Invol... ORPHA:401768
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, C... OMIM:613530
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Oculopharyngeal Muscular Dystrophy 1
Neck muscle weakness, Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, D... OMIM:164300
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Distal amyotrophy, Hand muscle weakness, Difficulty walking, Foot dorsiflexor weakness, Hand musc... OMIM:616280
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Steppage gait, Tibialis mu... OMIM:600334
Amyotrophic Lateral Sclerosis Type 4
Spastic paraplegia, Skeletal muscle atrophy, Babinski sign, Gait disturbance, Abnormal pyramidal ... ORPHA:357043
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... OMIM:620246
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers, Neck flexor weak... OMIM:616209
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:608807
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Difficulty walking, Tremor, Vocal cord paralysis OMIM:158580
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Ophthalmoparesis, Muscle fiber atrophy, Type 1 mu... OMIM:618654
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Gowers sign, Calf muscle hypertrophy, Proximal mu... OMIM:611615
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Tip-toe g... OMIM:254130
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... ORPHA:280333
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Gait disturbance, Facia... OMIM:609273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ... ORPHA:309169
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Proximal muscle weakness OMIM:614750
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Moderate Multiminicore Disease With Hand Involvement
Distal upper limb muscle weakness, Type 1 muscle fiber predominance, Generalized muscle weakness,... ORPHA:178145
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... ORPHA:178400
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Ataxia, Spastic gait, Slurred ... ORPHA:972
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Difficulty walking, Intrinsic hand muscle atrophy... ORPHA:399086
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Myasthenic Syndrome, Congenital, 12
Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu... OMIM:610542
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Slender build, Progre... ORPHA:399103
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, Neck mus... ORPHA:97240
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Myositis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Skeletal muscle atrophy ORPHA:565899
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 8
Gowers sign, Distal amyotrophy, Calf muscle hypertrophy, Proximal muscle weakness OMIM:618135
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Faci... OMIM:609283
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness, Scapular wing... OMIM:616471
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Myositis
Myositis OMIM:160750
Muscular Atrophy, Malignant Neurogenic
Respiratory paralysis, Skeletal muscle atrophy OMIM:158650
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Weakness of facial musculature, Progressive ex... OMIM:617069
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis OMIM:158590
Merrf
Ragged-red muscle fibers, Myopathy, Ataxia ORPHA:551
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Inability to walk, Ragged-red muscle fibers, Abnormality of extrapyramidal motor function, Ataxia... OMIM:615159
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Clumsiness... OMIM:610099
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Myoclonus, Ragged-red muscle fibers, Myopathy, Ataxia OMIM:545000
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, External ophthalmoplegia, Type 1 muscle fiber pre... OMIM:160565
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Dysmetria, Distal lower limb muscle weakness, Fiber type grouping, Th... OMIM:619903
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... OMIM:614302
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Paralysis, Skeletal muscle atrophy, Difficulty walking OMIM:613710
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ophthalmoplegia, Abnormal muscle fiber morph... ORPHA:270
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers, Fascicul... ORPHA:324581
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Pneumonia, Inability to walk, Weakness of facial musc... ORPHA:596
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Neck muscle weakness,... OMIM:160500
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Neck muscle weakness, Increased muscle lipid content, Ragged-red muscle fibers... OMIM:500009
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Myopathy, Distal, 4
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... OMIM:614065
Distal Myotilinopathy
Distal amyotrophy, Difficulty walking, Multiple joint contractures, Abnormal muscle fiber myotili... ORPHA:98911
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Gowers sign, Neck muscle weakness, Limb muscle weakness... OMIM:609285
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Skin rash, Myopathy, Myositis, ... ORPHA:206569
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Respiratory... OMIM:300580
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Difficulty walking, Chorea, Myoclonus, Ragged-red muscle... OMIM:500003
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Myoclonus, Babinski sign, Increased intramyocellu... OMIM:619065
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split... OMIM:253700
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Loss of ambulation, Calf muscle hyper... OMIM:616052
Congenital Myopathy 4B, Autosomal Recessive
Shoulder girdle muscle atrophy, Nemaline bodies, Neck muscle weakness, Distal lower limb amyotrop... OMIM:609284
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Generalized ... OMIM:256030
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Progress... OMIM:609452
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Loss of ambulation, Facial ... OMIM:603511
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Vocal cord paresis, Fasciculations, Foot dorsiflexor ... OMIM:619574
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Muscular dystrophy, Difficulty walking, Limb-girdle muscle weakness, H... OMIM:613818
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Proximal muscle weakness, Prog... OMIM:617070
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Broad-based gait, Increased endomysial connective... ORPHA:353
Mitochondrial Complex I Deficiency, Nuclear Type 21
Spasticity, Difficulty walking, Ragged-red muscle fibers, Myopathy, Babinski sign, Ataxia OMIM:618242
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Failure to thrive, Type 1 muscle fiber predominance, Multiple joint contractur... ORPHA:424107
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... ORPHA:34515
Bethlem Myopathy 1A
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... OMIM:158810
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... ORPHA:663
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Increased variability in muscle fiber diameter, Gait ataxia, Ataxia OMIM:617915
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Broad-based gait, Difficulty walking, Myopathy, C... ORPHA:119
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy, Muscle weakness ORPHA:85162
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Tip-toe gait, Lower limb muscle weakness, Angulated muscle fibers, Quadric... OMIM:620285
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers, Muscle weakness, Respiratory insufficiency due... OMIM:300816
Focal Myositis
Myositis ORPHA:48918
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Weakne... OMIM:619790
Neuropathy, Hereditary Motor And Sensory, Russe Type
Difficulty walking, Distal lower limb amyotrophy, Claw hand deformity, Distal lower limb muscle w... OMIM:605285
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Failure to thrive, Generalized muscle weakness, Proxi... OMIM:255310
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Generalized muscle weakness ORPHA:238329
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Failure to thrive, Elbow contracture, Muscle fibe... OMIM:613205
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Failure to thrive, Camptodactyly of finger, Diaph... OMIM:614399
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Neck muscle weakness, Limb m... OMIM:610687
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Loss of a... OMIM:619518
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... OMIM:248800
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Scapular winging, Waddling gait, Flexion contracture,... OMIM:255200
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Ophthalmoparesis, Upper limb muscle weakness, Lower limb muscle weakness, Intermittent episodes o... OMIM:601462
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Distal amyotrophy, Interosseus muscle atrophy, Spinal muscular atrophy, Distal lower limb muscle ... OMIM:607088
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro... ORPHA:98902
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness, Musc... ORPHA:263494
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:352479
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Nemaline Myopathy 10
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Generalized muscle weakness, Op... OMIM:616165
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Papa Syndrome
Crohn's disease, Myositis, Increased inflammatory response, Pustule, Arthritis, Acne ORPHA:69126
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Ophthalmoplegia, Respiratory insuffic... OMIM:607855
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis, Increased intramyocellular lipid ... ORPHA:681
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Poor head control, Increased variability in muscle fiber diameter, Failure to thrive OMIM:613752
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... ORPHA:171445
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... ORPHA:171439
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers, Hemiplegia/hemiparesis, Ataxia ORPHA:480
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Skeletal muscle atrophy, Tetraparesis, Inability to walk, Type... OMIM:618276
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Ophthalmoparesis, Neck muscle weakness, Limb muscle weakness, Weakness of facial musculature, Gen... OMIM:608930
Congenital Myasthenic Syndromes With Glycosylation Defect
Gowers sign, Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red m... ORPHA:353327
Myasthenic Syndrome, Congenital, 5
Ophthalmoparesis, Decreased muscle mass, Neck muscle weakness, Type 1 muscle fiber predominance, ... OMIM:603034
Idiopathic Camptocormia
Myelitis, Proximal spinal muscular atrophy, Abnormal muscle fiber dysferlin, Myositis, Parkinsoni... ORPHA:1320
Eosinophilic Fasciitis
Myositis, Muscular edema, Arthritis, Fasciitis ORPHA:3165
Autosomal Dominant Spastic Paraplegia Type 3
Tip-toe gait, Distal lower limb amyotrophy, Rigidity, Distal lower limb muscle weakness, Babinski... ORPHA:100984
Spinocerebellar Ataxia 28
Spasticity, Limb ataxia, Gait ataxia, Ragged-red muscle fibers, Babinski sign, Parkinsonism, Lowe... OMIM:610246
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... OMIM:617258
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb ... OMIM:619028
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Facial diplegia, Type 1 muscle fiber predominance, Hi... ORPHA:169186
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Facial diplegia, Knee flexion contracture, Paralysis, Distal arthrogryposis OMIM:616286
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Difficulty walking, Myositis... ORPHA:99845
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Distal amyotrophy, Lower limb muscle weakness, Foot dorsiflexor weakness, Hand m... OMIM:607684
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Late-onset distal muscle weakness, Slender build, Type 1 muscle fiber predominan... OMIM:161800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Difficulty walking, Limb-girdle muscle weakness, Hypoglycosylation of alpha-d... OMIM:609308
Nemaline Myopathy 8
Nemaline bodies, Ophthalmoparesis, Myofibrillar myopathy, Flexion contracture, Facial palsy, Musc... OMIM:615348
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature OMIM:615959
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Fasciculations, Difficulty walking, Facial diplegia, Foot ... ORPHA:329478
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Progressive distal mu... ORPHA:397744
Bethlem Muscular Dystrophy
Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy... ORPHA:610
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature, Ataxia, Frequent falls,... OMIM:618416
Congenital Myopathy 24
Nemaline bodies, Type 1 muscle fiber predominance, Scapular winging, Gowers sign, Facial palsy, M... OMIM:617336
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive, Generalized muscle weakness OMIM:614096
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Difficulty walking, Inability to walk, Reduced muscle fiber alpha... ORPHA:206559
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy, Respiratory insufficiency due to muscle... OMIM:616816
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Skeletal muscle atrophy, Generalized muscle weakness, Proximal muscle weaknes... OMIM:613723
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Spasticity, Myopathy, Gait disturbance, Ataxia OMIM:125250
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... OMIM:616470
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Progressive muscle weakness, Skelet... OMIM:151800
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Flexion contracture, Panniculitis, Skeletal muscle atrophy OMIM:619183
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophtha... OMIM:613662
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Distal amyotrophy, Skeletal muscle atrophy, Difficulty walk... OMIM:614895
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Difficulty walking, Chorea, Muscle fiber atro... ORPHA:369840
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Ophthalmoparesis, Skeletal muscle atrophy, Decreased muscle mass, Fatigable weakness, Type 2 musc... OMIM:608931
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Postsynaptic Congenital Myasthenic Syndromes
Ophthalmoparesis, Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoul... ORPHA:98913
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Elbow flexion contracture, Abnormality of the shoulder girdle muscula... ORPHA:206546
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Central Core Disease
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Ophthal... ORPHA:597
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Proximal muscle weakness, Peroneal musc... OMIM:611588
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Fatiguable weakness o... ORPHA:171881
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Muscle weakness, Spinal muscular atrophy OMIM:253550
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Facial diplegia, Distal arthrogryposis, Vocal cord paralysis, Flexion contracture OMIM:616287
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Keratitis, Punctate keratitis... OMIM:226670
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... OMIM:619542
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu... OMIM:254090
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ophthalmoparesis, Limb muscle weakness, Fatigable weakness, Myopathy, Bulbar palsy, Type 2 muscle... OMIM:605809
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Muscle weakness OMIM:616794
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Distal arth... OMIM:620011
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyram... ORPHA:98757
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Respiratory insufficiency due to... OMIM:609560
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Abnormal muscle fiber morphology, EMG: myopa... OMIM:123320
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Failure to thrive, Myopathy OMIM:618246
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Broad-based gait, Skeletal muscle atrophy, Lower limb muscle weakness, Difficulty walking, Ragged... OMIM:616479
Nemaline Myopathy 9
Nemaline bodies, Arthrogryposis multiplex congenita, Muscle weakness OMIM:615731
Classic Multiminicore Myopathy
Muscular dystrophy, Failure to thrive, Muscle fiber atrophy, Intermittent episodes of respiratory... ORPHA:324604
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule ORPHA:48104
Periodic Fever, Familial, Autosomal Dominant
Erysipelas, Skin rash, Myositis, Oligoarthritis, Conjunctivitis, Maculopapular exanthema OMIM:142680
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Chorea, Athetosis, Myoclonus OMIM:617235
Myasthenic Syndrome, Congenital, 6, Presynaptic
Ophthalmoparesis, Fatigable weakness, Bulbar palsy, Type 2 muscle fiber atrophy, Respiratory insu... OMIM:254210
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Tip-toe gait, Difficulty walking, Reduced muscle fiber alpha dystroglycan, Fa... ORPHA:370980
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl... ORPHA:254864
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy, Gait disturbance, Fasciculations OMIM:608030
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... OMIM:310300
Autosomal Recessive Progressive External Ophthalmoplegia
Shuffling gait, Hand muscle weakness, Muscle fiber atrophy, Cogwheel rigidity, Ragged-red muscle ... ORPHA:254886
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Quadriceps muscle weakness, Hand tremor, Hand muscle weakness, Postural tremor, Distal lower limb... ORPHA:99947
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Amyoplasia... OMIM:181405
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Gene... ORPHA:171433
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ataxi... OMIM:607459
Acute Peripheral Arterial Occlusion
Paralysis, Limb muscle weakness ORPHA:90064
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Proxima... OMIM:615352
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Akinesia, Arthrogryposis multipl... OMIM:619334
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Skeletal muscle atrophy, Fasciitis, Acute hepati... ORPHA:39812
Oculopharyngodistal Myopathy
Vocal cord paresis, Proximal muscle weakness in upper limbs, Difficulty walking, Paraplegia, Dist... ORPHA:98897
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Mu... OMIM:613561
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Vocal cord pare... ORPHA:101097
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb muscle weakness, Ragged-red muscle fibers, Babinski sign, ... ORPHA:99013
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Gowers sign, Facial palsy, ... OMIM:602541
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Muscle fiber atrophy, Li... OMIM:258450
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture OMIM:615368
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Skeletal muscle atrophy ORPHA:868
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis, Hand muscle weakness OMIM:162500
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis OMIM:606777
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Distal muscle weakness, Skeletal muscle atrophy OMIM:205250
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... OMIM:607706
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Weakness of facial musculature, Type 1 muscle fiber... OMIM:617519
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Clonus, Small thenar eminence, Scapular winging, Osteoarthriti... OMIM:620080
Muscular Dystrophy, Congenital, With Rapid Progression
Muscular dystrophy, Muscle weakness OMIM:254100
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis, Skeletal muscle atrophy, Limb muscle weakness OMIM:612300
Whipple Disease
Myoclonus, Infectious encephalitis, Myositis, Abnormal pyramidal sign, Arthritis, Ataxia, Myocard... ORPHA:3452
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal amyotrophy, Denervation of the diaphrag... ORPHA:99948
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Facial diplegia, Foot dorsiflexo... ORPHA:171436
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Vocal cord paresis, Shoulder girdle muscle weakness, Difficulty walking, Distal ... ORPHA:600
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Hemiplegia/hemiparesis, Myositis, Increased inflammatory response, Myocarditis, Gait d... ORPHA:183
Spastic Paraplegia 39, Autosomal Recessive
Distal amyotrophy, Progressive spastic paraplegia, Distal lower limb muscle weakness, Babinski si... OMIM:612020
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Pustular rash, Malar rash, Skin rash, Myositis, Pustule OMIM:615934
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Spastic paraparesis, Difficulty walking, Interosseus muscle atrophy, Distal lower limb amyotrophy... OMIM:500013
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos... ORPHA:71277
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, D... ORPHA:240094
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Axial muscle weakness, Flexion contrac... ORPHA:178148
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Absent muscle fiber merosin, Inability to walk, Muscle fiber atrophy, Myositi... ORPHA:258
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Spasticity, Left ventricular noncompaction, Myoclonus, Ragged-red muscle fibers, Babinski sign, I... OMIM:252011
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy, Muscle weakness OMIM:254950
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Axial muscle weakness, Proximal muscle weakness, ... OMIM:616720
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Failure to thrive, Elb... OMIM:619461
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis, Myopathy OMIM:170400
Antisynthetase Syndrome
Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis ORPHA:81
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased muscle mass, Inability to walk, Knee flexion contracture, Intrinsic h... OMIM:615490
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Obesity, Ragged-red muscle fibers, Left ventricular hypertrophy, Achille... OMIM:615418
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Myositis, Arthritis, Sinusitis, Conjunctivitis, Flexion contracture, Panniculitis OMIM:617591
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Tip-toe gait, Difficult... ORPHA:300605
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Hemiplegia, Malar rash, Skin rash, Myositis, Arthritis ORPHA:93552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Inability to walk, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Ataxia OMIM:615350
Combined Oxidative Phosphorylation Defect Type 27
Upper limb postural tremor, Involuntary movements, Ragged-red muscle fibers, Tetraparesis ORPHA:477774
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Limb muscle weakness OMIM:606842
Myopathy Due To Myoadenylate Deaminase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Muscle weakness, Myopathy OMIM:615511
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Resting tremor, Hand tre... OMIM:157640
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Infectious encephalitis, Myositis, Myo... ORPHA:36234
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of muscles of respirati... ORPHA:52430
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Failure to thrive in infancy, Increased variability in muscle fiber diameter, Flexion contracture... OMIM:619026
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Failure to thrive, Type 1 muscle fiber predominance, Hip contracture, ... ORPHA:319514
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Ophthalmoparesis, Skeletal muscle atrophy, Rhabdo... OMIM:255125
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Distal... OMIM:164310
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Skeletal muscle atrophy, Muscle weakness, Increased muscle glycogen content ORPHA:371
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Involuntary movements, Distal amyotrophy, Loss of ambulation, Babinski sign, Clumsiness, Ataxia, ... OMIM:271245
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Mixed Connective Tissue Disease
Skin rash, Myositis, Gastritis, Keratoconjunctivitis sicca, Arthritis, Myocarditis, Pericarditis ORPHA:809
Fusariosis
Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Maculopapular exanthema, Myositis, Peritonitis, A... ORPHA:228119
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Difficulty walking, Inability ... OMIM:617675
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... OMIM:616866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Hypoglycosylation of alpha-dystroglycan, Joi... OMIM:615351
Myasthenia Gravis
Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Hepatitis ORPHA:589
Glycogen Storage Disease Xv
Type 1 muscle fiber predominance, Muscle weakness, Scapular winging OMIM:613507
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Osteomyelitis,... ORPHA:37042
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein, Myoclonus, Parkinsonism, Oculomotor apraxia, Apr... ORPHA:1020
Sweet Syndrome
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... ORPHA:3243
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Progressive external ophthalmoplegia, Proximal amyotrophy, Facial palsy... OMIM:615084
Behçet Disease
Ataxia, Recurrent aphthous stomatitis, Infectious encephalitis, Myositis, Increased inflammatory ... ORPHA:117
Thymoma
Myositis, Rheumatoid arthritis, Glomerulonephritis, Ulcerative colitis ORPHA:99867
Pyomyositis
Myositis, Recurrent cutaneous abscess formation ORPHA:764
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Gait disturbance, Slurred speech, Ragged-red muscle fibers, Ataxia ORPHA:1349
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ophthalmoplegia, Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy OMIM:540000
Combined Oxidative Phosphorylation Deficiency 19
Poor head control, Increased variability in muscle fiber diameter, Failure to thrive OMIM:615595
Optic Atrophy 11
Increased variability in muscle fiber diameter, Facial diplegia, Dysmetria, Hyperkinetic movement... OMIM:617302
Snakebite Envenomation
Pseudobulbar paralysis, Rhabdomyolysis, Respiratory paralysis, Paralysis, Muscle fiber necrosis ORPHA:449285
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Progressive external ophthalm... ORPHA:352447
Microsporidiosis
Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Osteomyelitis, Infectious encephalitis... ORPHA:2552
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture, Failure to thrive OMIM:620240
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Spasticity, Hepatitis, Eczematoid dermatitis, Myositis OMIM:620565
Aicardi-Goutières Syndrome
Spasticity, Spastic paraparesis, Extrapyramidal muscular rigidity, Difficulty walking, Chilblains... ORPHA:51
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Arthritis, Conjunctiv... ORPHA:32960
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Failure to thrive, Generalized limb muscle atrophy, Ragged-red muscle fibers, Progressive muscle ... OMIM:600462
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Myopath... ORPHA:682
Horner Syndrome, Congenital
Paralysis OMIM:143000
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle weakness, Muscle fiber atrophy, Increased muscle lipid content, Rhabdomyolysis ORPHA:228302
X-Linked Adrenoleukodystrophy
Leg muscle stiffness, Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, P... ORPHA:43
Machado-Joseph Disease Type 1
Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ... ORPHA:276241
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis, Rhabdomyolysis OMIM:188580
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Dysdiadochokinesis, Difficulty walking, Dysmetria... ORPHA:502423
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Muscle weakness OMIM:232800
Severe Congenital Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Axia... ORPHA:171430
Myasthenic Syndrome, Congenital, 16
Gait disturbance, Periodic paralysis OMIM:614198
Myasthenia, Limb-Girdle, Autoimmune
Ophthalmoparesis, Proximal amyotrophy, Type 2 muscle fiber atrophy, Fatigable weakness OMIM:159400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, Progressive external op... OMIM:609286
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... ORPHA:803
Juvenile Dermatomyositis
Skin rash, Myositis, Arthritis, Calcinosis, Pericarditis ORPHA:93672
Familial Cervical Artery Dissection
Paralysis, Facial palsy ORPHA:36382
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Spasticity, Type 1 muscle fiber predominance, Rig... OMIM:612949
Mitochondrial Neurogastrointestinal Encephalomyopathy
External ophthalmoplegia, Ophthalmoparesis, Decreased muscle mass, Foot dorsiflexor weakness, Rag... ORPHA:298
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Limb muscle weakness, Proximal m... OMIM:300257
Hypotonia-Cystinuria Syndrome
Muscle weakness, Facial palsy, Ragged-red muscle fibers, Failure to thrive OMIM:606407
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Proximal muscle weakness, Weakness o... OMIM:616239
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Ophthalmoparesis, Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morphology ORPHA:3068
Synaptic Congenital Myasthenic Syndromes
Ophthalmoparesis, Skeletal muscle atrophy, Hand muscle weakness, Neck muscle weakness, Type 1 mus... ORPHA:98915
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ophthalmoparesis, Ragged-red muscle fibers, Proxi... ORPHA:70595
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Hand muscle weakness, Generalized limb muscle atrophy, Shoulder girdle muscle we... ORPHA:98908
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis OMIM:300857
Native American Myopathy
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Camptodactyly, Abnormality... ORPHA:168572
Machado-Joseph Disease Type 3
Spasticity, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormality of extrapyramidal ... ORPHA:276244
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Generalized muscle weakness OMIM:619424
Primary Sjögren Syndrome
Arteritis, Parotitis, Chronic active hepatitis, Chorea, Lymphocytic interstitial pneumonia, Myosi... ORPHA:289390
Ehlers-Danlos Syndrome, Classic-Like, 1
Proximal amyotrophy, Muscle fiber splitting, Proximal muscle weakness OMIM:606408
Congenital Myasthenic Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Neck muscle weakness... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Neck muscle weakness... ORPHA:98914
Variegate Porphyria
Paralysis OMIM:176200
Poliomyelitis
Hypoplasia of the musculature, Myelitis, Skeletal muscle atrophy, Upper limb muscle weakness, Low... ORPHA:2912
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy ORPHA:2348
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Dist... OMIM:606071
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Poor head control, Increased variability in muscle fiber diameter, Muscular dystrophy OMIM:616538
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Calf muscle pseudohypertrophy, Myopathy, Skeletal musc... ORPHA:79083
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tip-toe gait, L... ORPHA:99956
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Parkinsonism OMIM:105500
Primary Angiitis Of The Central Nervous System
Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Skeletal muscle atrophy, Gait imbalance, Hand muscle atrophy, Ankle clonus... OMIM:211530
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Proximal muscle weakness, Weakness of facial musculature, Neck fl... OMIM:602668
Coenzyme Q10 Deficiency, Primary, 1
Myoclonus, Ragged-red muscle fibers, Tremor, Loss of ambulation, Decreased level of coenzyme Q10 ... OMIM:607426
Congenital Fiber-Type Disproportion Myopathy
Hypoplasia of the musculature, Weakness of muscles of respiration, Hip contracture, Generalized m... ORPHA:2020
Polymyositis
Proximal muscle weakness, Weight loss, Abnormal muscle fiber morphology ORPHA:732
Paramyotonia Congenita Of Von Eulenburg
Periodic hypokalemic paresis, EMG: myopathic abnormalities, Facial muscle hypertrophy ORPHA:684
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Vocal cord paresis, Distal amyotrophy, Limb muscle weakness, Steppage gait OMIM:601152
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Dermatomyositis
Heliotrope rash, Inflammatory myopathy, Skin rash, Myositis, Limb-girdle muscle weakness, Arthrit... ORPHA:221
Overlap Myositis
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Rheumatoid arthriti... ORPHA:206572
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis, Vocal cord paralysis ORPHA:2375
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Myopathy OMIM:604377
Thyrotoxic Periodic Paralysis
Ophthalmoparesis, Lower limb muscle weakness, Obesity, Episodic flaccid weakness, Rhabdomyolysis,... ORPHA:79102
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Muscle weakness, Muscle fiber splitting, Myopathy OMIM:611881
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormality of the extraocular muscles, Myositis, Keratoconjunctivitis sicca, Tubulointerstitial ... ORPHA:79078
Kearns-Sayre Syndrome
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Muscle weakness OMIM:530000
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ophthalmoparesis, Distal amyotrophy, Slender build, Ragged-red muscle fibers, Progressive externa... OMIM:603041
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Muscle fiber necros... OMIM:618733
Japanese Encephalitis
Skeletal muscle atrophy, Pill-rolling tremor, Elbow flexion contracture, Cogwheel rigidity, Myocl... ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 12
Poor head control, Ophthalmoplegia, Ragged-red muscle fibers, Failure to thrive OMIM:614924
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Limb muscle weakness, Myopathy, Ataxia, Hypomimic face, Bradykinesia, Quadriceps ... ORPHA:254892
Combined Oxidative Phosphorylation Deficiency 58
Ataxia, Difficulty walking, Myoclonus, Ragged-red muscle fibers, Appendicular spasticity, Gait at... OMIM:620451
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Vocal cord paralysis ORPHA:142
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Macro... OMIM:613150
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Myoclonus, Ragged-red mu... ORPHA:17
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Tetrasomy 9P
Myositis, Glue ear, Arthritis, Pericarditis ORPHA:3310
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:230800
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Congenital contracture, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Type 2 mus... OMIM:619036
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Macroglossia, Torticollis OMIM:617022
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Gm2-Gangliosidosis, Ab Variant
Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, Spastic tet... OMIM:272750
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hashimoto thyroiditis, Paralysis ORPHA:83601
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture OMIM:613154
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle weakness, Decreased muscle mass, Elbow flexion contracture, Muscle fiber atrophy, Limb mus... ORPHA:1900
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Inflammatory abnormality of the skin, Abnormality of the shoulder girdle muscula... ORPHA:565612
Gitelman Syndrome
Paralysis, Rhabdomyolysis, Ataxia OMIM:263800
Tick-Borne Encephalitis
Tongue fasciculations, Myelitis, Skeletal muscle atrophy, Incoordination, Speech apraxia, Tremor,... ORPHA:297
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:228371
Glioblastoma
Paralysis ORPHA:360
Pseudohypoaldosteronism Type 2
Periodic paralysis ORPHA:757
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Failure to thrive, Ragged-red muscle fibers, Increased intramyocellular ... OMIM:252010
Mitochondrial Dna-Associated Leigh Syndrome
Spasticity, Chorea, Gait ataxia, Ragged-red muscle fibers, Hypertonia, Ataxia ORPHA:255210
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Melas
Abnormal central motor function, Myoclonus, Ragged-red muscle fibers, Myopathy, Hemiparesis, Recu... ORPHA:550
Arnold-Chiari Malformation Type I
Gait ataxia, Babinski sign, Abnormality of the musculature of the lower limbs, Vocal cord paralys... ORPHA:268882
Choreoacanthocytosis
Peroneal muscle atrophy, Poor motor coordination, Involuntary movements, Distal amyotrophy, Bleph... ORPHA:2388
Rift Valley Fever
Hepatitis, Skin rash, Infectious encephalitis, Hemiparesis, Paralysis, Paraparesis, Decerebrate r... ORPHA:319251
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Inhalational Botulism
Paralysis ORPHA:254504
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic paralysis, Periodic hypokalemic paresis, Scapular winging OMIM:170390
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Muscle weakness, Failure to thrive, Ragged-red muscle fibers, Rhabdomyolysis OMIM:124000
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Periodic hypokalemic paresis ORPHA:37553
African Trypanosomiasis
Myelitis, Involuntary movements, Keratitis, Fasciculations, Abnormal central motor function, Diff... ORPHA:3385
Encephalocraniocutaneous Lipomatosis
Spasticity, Hemiplegia, Rigidity, Hemiparesis, Paralysis, Tetraplegia, Hypertonia ORPHA:2396
Gitelman Syndrome
Gout, Rhabdomyolysis, Hashimoto thyroiditis, Paralysis, Tubulointerstitial nephritis ORPHA:358
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia OMIM:203700
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Spastic paraplegia, Broad-based gait, Limb ataxia, Paralysis, Oculomotor ... ORPHA:2072
Singleton-Merten Syndrome 1
Tendon rupture, Muscle fiber atrophy, Muscle weakness, Decreased body weight OMIM:182250
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
Periodic hypokalemic paresis, Tremor 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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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