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Gene: Dysf MGI:1349385

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
dysferlin
Synonyms:
2310004N10Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dysf mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... ORPHA:178400
Miyoshi Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Shoulder girdle muscle weakn... ORPHA:45448
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Proximal muscle weakness OMIM:606768
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy, Congenital, With Rapid Progression
Muscular dystrophy, Muscle weakness OMIM:254100
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapulohumeral muscular dystrophy, Foot dorsiflexor weakness, Facial palsy, Scapular winging, Pel... OMIM:158901
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Miyoshi Muscular Dystrophy 3
Muscular dystrophy, Distal upper limb muscle weakness, Quadriceps muscle weakness, Distal lower l... OMIM:613319
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy, Gowers sign, Limb-girdle muscle weakness OMIM:616094
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, E... OMIM:613530
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
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
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Distal amyotrophy, Rhabdomyolysis, Distal lower limb mus... ORPHA:399096
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... OMIM:618848
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Neck muscle weakness, Proximal amyotrophy, Muscular dystrophy, Proximal muscle weakness OMIM:612998
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, T... OMIM:614807
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev... OMIM:608807
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... ORPHA:178400
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Skeletal muscle atrophy, Proximal muscle weakness, Generalized muscle weaknes... OMIM:613723
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev... OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... OMIM:600334
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618992
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscl... ORPHA:2593
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Lower limb muscle weakness, Elevated circulating creatine kinase concentratio... OMIM:253600
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Muscle weakness OMIM:253590
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies, Elevated circulating creatine kinase co... OMIM:616231
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Muscular dystrophy, Shoulder girdle muscle weakness, Proximal muscle weakness, Quadriceps muscle ... OMIM:611307
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
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase OMIM:604454
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Ankle flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concentration... OMIM:613818
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase, Myopathy, Weakness of facial... OMIM:617030
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated cir... OMIM:605820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Elevated circul... OMIM:604286
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Progress... OMIM:609452
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Mildly ele... OMIM:610099
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:620246
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn... ORPHA:34515
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Muscular dystrophy, Generalized muscle weakness OMIM:613152
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Proximal muscle weakness, Proximal amyotrophy, Calf muscle hypertrophy, Scapu... OMIM:601287
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Eleva... OMIM:609115
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Ankle weakness, Foot dorsiflexor w... ORPHA:98912
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Elevated circulating creatine kinase concentration, Limb-girdle muscle weakne... OMIM:609308
Distal Nebulin Myopathy
Nemaline bodies, Ankle flexion contracture, Sternocleidomastoid amyotrophy, Progressive distal mu... ORPHA:399103
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Skeletal muscle hypertrophy, Proximal muscle weakness OMIM:613158
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Elevated circulating creati... OMIM:603511
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness, Elev... ORPHA:263494
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Scapulohumeral muscular dystrophy, Myopathy, Elevated circulating creatine kinase concentration OMIM:160570
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform OMIM:302045
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Mildly eleva... OMIM:160150
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Episodic Muscle Weakness, X-Linked
Muscle weakness OMIM:300211
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Muscular Dystrophy, Congenital, 1B
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Diaphragmati... OMIM:604801
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Fiber type grouping, Distal amyotrophy, Tremor OMIM:614369
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Proximal muscle weakness, Peroneal muscle weakness, ... OMIM:611588
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split... OMIM:253700
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Eleva... OMIM:609524
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Progressive musc... ORPHA:98902
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Elevated circulating creatine k... ORPHA:565899
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... OMIM:614302
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Elevate... OMIM:615352
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Elevated circulating creatine kinase ... OMIM:607855
Distal Myopathy, Welander Type
Rimmed vacuoles, Mildly elevated creatine kinase, Distal upper limb amyotrophy, Foot dorsiflexor ... ORPHA:603
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase concentration OMIM:609500
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Muscular dystrophy, Lower limb muscle weakness, Scapular muscle atroph... ORPHA:267
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Multifocal Motor Neuropathy
Progressive muscle weakness, Progressive distal muscle weakness, Limb muscle weakness, Weakness o... ORPHA:641
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs... ORPHA:1878
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers, Elevated circula... OMIM:616209
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Inflammatory myopathy, Myopathy, Elevated circulating creatine kinase concent... OMIM:123320
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentra... OMIM:300376
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Distal Myotilinopathy
Distal amyotrophy, Progressive distal muscle weakness, Multiple joint contractures, Abnormal musc... ORPHA:98911
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Elevated circulating cre... OMIM:611615
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated ... OMIM:616516
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 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300717
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Muscular dystrophy, Elevated circulating creatine kinase concentration, Scapular winging, Achille... ORPHA:62
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facia... OMIM:619477
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Skeletal muscle atrophy, Triangular tongue, Elevated circulating creatine kin... OMIM:616827
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle atrophy, Muscular dystrophy, Limb-girdle muscular dystrophy, Elbow flexion contra... OMIM:181350
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Progressive distal muscle weakness, Intrinsic han... ORPHA:399086
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:309930
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Skin rash, Myopathy, Elevated c... ORPHA:206569
Focal Myositis
Myositis, Elevated circulating creatine kinase concentration ORPHA:48918
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red muscle fibers, Elevated ci... OMIM:500002
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Muscular dystrophy OMIM:254000
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Elevated circulating cr... OMIM:609273
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase concent... ORPHA:270
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac... OMIM:616470
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... ORPHA:663
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co... OMIM:616471
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Mildly elevated creatine kinase, Reduced muscle fiber alpha dystroglycan, Fac... ORPHA:370980
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle fiber atrophy, Tremor... ORPHA:309169
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... ORPHA:280333
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Myositis
Myositis OMIM:160750
Oculopharyngeal Muscular Dystrophy 1
Facial palsy, Limb muscle weakness, Ragged-red muscle fibers, Elevated circulating creatine kinas... OMIM:164300
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613869
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Keratitis, Punctate keratitis... OMIM:226670
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
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Eleva... OMIM:160565
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Desminopathy
Axial muscle weakness, Distal lower limb muscle weakness, Weakness of facial musculature, Progres... ORPHA:98909
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:613151
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Calf muscle hyper... ORPHA:98896
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Elevated circulatin... OMIM:608840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase... OMIM:615350
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Abnormal circulating creatine kinase concentr... ORPHA:369840
Facioscapulohumeral Muscular Dystrophy 1
External ophthalmoplegia, Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, Skel... OMIM:158900
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Elevated circulating creati... OMIM:602541
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentra... OMIM:617069
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Myopathy, Myofibrillar, 6
Muscular dystrophy, Lower limb muscle weakness, Myofibrillar myopathy, Knee flexion contracture, ... OMIM:612954
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Oculopharyngodistal Myopathy
Ophthalmoparesis, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Pro... ORPHA:98897
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Lower limb muscle weakness, Elevated circulating creatine kinase ... OMIM:616052
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ... OMIM:620542
Bethlem Muscular Dystrophy
Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy... ORPHA:610
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Neck muscle weakness, Hamstrin... OMIM:613205
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Pneumonia, Weakness of facial musculature, Type 1 fib... ORPHA:596
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Elevated circulating creatine kinase concent... OMIM:615351
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Postural tremor, Tremor, Weaknes... OMIM:619790
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, H... OMIM:615959
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va... OMIM:619518
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb muscle weakness, Angulated muscle fibers, Generalized muscle weakness, Quadriceps musc... OMIM:620285
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Elevated circulating creatine ... ORPHA:972
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Facial palsy, Ragged-red muscle fibers OMIM:609283
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
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
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Digital Extensor Muscle Aplasia-Polyneuropathy
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2926
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Type 1 muscle fiber p... OMIM:160500
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Hyperphosphatemia, Lower limb muscle weakness, Hypocalce... ORPHA:99845
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Generalized muscle weakness, Distal lower limb mus... ORPHA:254361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, ... OMIM:613155
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, S... ORPHA:98905
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Shoulder girdle muscle weak... ORPHA:2596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc... OMIM:606612
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Increased serum pyruvate, Skeletal muscle atrophy ORPHA:238329
Papa Syndrome
Crohn's disease, Myositis, Increased inflammatory response, Pustule, Arthritis, Acne ORPHA:69126
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Extremely elevated creatine kinase, Mildly elevated crea... ORPHA:171445
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract... OMIM:617258
Idiopathic Camptocormia
Myelitis, Proximal spinal muscular atrophy, Abnormal muscle fiber dysferlin, Elevated circulating... ORPHA:1320
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased variability in muscle fiber diameter, Hypermethioninemia, Increased ci... OMIM:613752
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Abnormal circulating lip... OMIM:615980
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Amyotrophic Lateral Sclerosis 8
Distal amyotrophy, Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Progre... OMIM:608627
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Dystonia, Athetosis, Ragged-red muscle fibers OMIM:615159
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Increased serum pyruvate, Ragged-red muscle fibers, Myopathy OMIM:545000
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Type 1 muscle fiber predomina... OMIM:254090
Myasthenic Syndrome, Congenital, 12
Mildly elevated creatine kinase, Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy OMIM:610542
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Eosinophilic Fasciitis
Myositis, Muscular edema, Arthritis, Fasciitis ORPHA:3165
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Scapular winging, Flexion contracture, Facial palsy, ... OMIM:255200
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle weakness, Myo... OMIM:300580
Variant Abeta2M Amyloidosis
Renal amyloidosis, Amyloidosis of peripheral nerves, Hepatic amyloidosis, Abnormal skeletal muscl... ORPHA:314652
Mitochondrial Myopathy, Infantile, Transient
Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ... OMIM:500009
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Elevated circulating creatine ... OMIM:617070
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl... OMIM:619542
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Progressive muscle weakness, Skelet... OMIM:151800
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Elevated... OMIM:615368
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Muscular dystrophy, Distal lower limb muscle weakness ORPHA:459033
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Dystonia, Increased intramyocellular lipid droplets OMIM:619065
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Muscular dystrophy ORPHA:1875
Classic Multiminicore Myopathy
Muscular dystrophy, Muscle fiber atrophy, Increased muscle lipid content, Multiple joint contract... ORPHA:324604
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:352479
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ophthalmoparesis, Skeletal muscle atrophy, Myopathy, Generalized muscle weakness, Progressive ext... ORPHA:254875
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Camptodactyly of finger, Myopathy, Hypoglycosylation of alpha-dystroglycan, F... ORPHA:272
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, E... OMIM:248800
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co... ORPHA:119
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression ORPHA:330054
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Facial diplegia, Type 1 muscle fibe... ORPHA:169186
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mildly elevated creat... ORPHA:397744
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Elevated circulating cre... OMIM:614399
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi... OMIM:609285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Elevated circulating creatine kinase concentration, Left ventricular hypertro... OMIM:613156
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Myeloma, Multiple
Amyloidosis OMIM:254500
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Nemaline Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Nemaline... OMIM:256030
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type ... OMIM:619903
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Muscular dystrophy ORPHA:324416
Combined Oxidative Phosphorylation Deficiency 6
Increased serum pyruvate, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Flexion contracture, Panniculitis, Skeletal muscle atrophy OMIM:619183
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Miyoshi Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Shoulder girdle muscle weakn... ORPHA:45448
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Shoulder girdle muscle weakness, Elevated circulating creatine kinase concent... OMIM:607155
Central Core Disease
Nemaline bodies, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomin... ORPHA:597
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Tremor, Triceps weakness, ... OMIM:619574
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Generalized limb muscle atrophy,... ORPHA:171439
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:615181
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
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ... ORPHA:254864
Congenital Myopathy 24
Nemaline bodies, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomin... OMIM:617336
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Hyperammonemia, Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Rha... OMIM:618416
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Skeletal muscle atrophy, Fasciitis, Acute hepati... ORPHA:39812
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrop... ORPHA:206559
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Hyperalaninemia, ... OMIM:617228
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Proximal muscle weakness OMIM:606768
Antisynthetase Syndrome
Skin rash, Elevated circulating creatine kinase concentration, Myositis, Keratoconjunctivitis sic... ORPHA:81
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Pustular rash, Malar rash, Skin rash, Myositis, Pustule, Elevated circul... OMIM:615934
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness OMIM:300076
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Absent muscle fiber merosin, Muscle fiber atrophy, Myositis, Macroglossia, Fl... ORPHA:258
Striatonigral Degeneration, Infantile, Mitochondrial
Paroxysmal choreoathetosis, Lingual dystonia, Ragged-red muscle fibers OMIM:500003
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
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Hamstring contractures, Knee flexion contracture, Elevated circulating creati... OMIM:310200
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Increased intramyocellular lipid droplets, Mildly elevated creatine kinase,... ORPHA:681
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Muscular dystrophy, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration OMIM:613153
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Ragged-red muscle fibers OMIM:616794
Congenital Muscular Dystrophy With Cerebellar Involvement
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Elevated circulating creatine kinase... ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy, Elevated circulating creatine... OMIM:616538
Bacterial Toxic-Shock Syndrome
Pneumonia, Hypoalbuminemia, Hepatitis, Fasciitis, Osteomyelitis, Elevated circulating creatinine ... ORPHA:36234
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ragged-red muscle fibers, Myopathy OMIM:618242
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:559
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Hypertriglyceridemia, Myositis, Arthritis, Sinusitis, Conjunctivitis, Flexion contract... OMIM:617591
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,... ORPHA:353327
Amyloidosis, Primary Localized Cutaneous, 1
Cutaneous amyloidosis OMIM:105250
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dystonia, Skeletal muscle atrophy, Type 1 muscle fiber predominance OMIM:618276
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Elevated circulating creatine ki... OMIM:609560
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita OMIM:619334
Congenital Disorder Of Glycosylation, Type Ie
Ankle flexion contracture, Muscular dystrophy, Knee flexion contracture, Elevated circulating cre... OMIM:608799
Muscular Dystrophy, Congenital, With Or Without Seizures
Progressive muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscle weakness, Proximal m... OMIM:620166
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Scapu... ORPHA:424107
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter OMIM:614096
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Foot dorsiflexor weakness, Craniofacia... OMIM:620011
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Facial diplegia, Foot dorsiflexor weakness, Tremor, Intrin... ORPHA:329478
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... OMIM:310300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture, Elevated circula... OMIM:613154
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Ragged-red muscle fibers, Progressive muscle weakness, Scapular ... OMIM:600462
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Hypoalbuminemia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatiti... ORPHA:37042
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Athetosis OMIM:617235
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... ORPHA:536516
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Total ophthalmoplegia, L... OMIM:157640
Amyloidosis, Hereditary Systemic 2
Generalized amyloid deposition, Renal amyloidosis OMIM:105200
Spinocerebellar Ataxia 28
Dystonia, Ragged-red muscle fibers, Lower limb hypertonia OMIM:610246
Whipple Disease
Infectious encephalitis, Myositis, Hyponatremia, Arthritis, Myocarditis, Pericarditis, Uveitis ORPHA:3452
Sweet Syndrome
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... ORPHA:3243
Arts Syndrome
Progressive muscle weakness OMIM:301835
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Muscular dystrophy, Flexion contracture, Elevated circulating creatine kinase concentration OMIM:615249
Atrial Standstill
Left ventricular noncompaction, Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy ORPHA:1344
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Malar rash, Skin rash, Myositis, Arthritis ORPHA:93552
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Abnormal muscle fiber... ORPHA:171881
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Type 2 m... OMIM:603034
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Small thenar eminence, Scapular winging, Osteoarthritis, Tendo... OMIM:620080
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Myositis, Increased inflammatory response, Myocarditis, Arthritis, Sinusitis, Tubuloin... ORPHA:183
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Increased total bilirubin, Gout, Hyperuricemia, E... OMIM:232800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Congenital contracture, Eleva... OMIM:613150
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
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Skele... OMIM:607459
Myasthenia Gravis
Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Hepatitis ORPHA:589
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Muscle fiber atrophy, Increased muscle lipid co... ORPHA:228302
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Weakness of facial musculature, Type 1 muscle fiber... OMIM:617519
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Hypoplasia of the musculature, Weakness of muscles of respiration, Sho... ORPHA:2020
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Tremor OMIM:619028
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Arthritis, Elevated c... ORPHA:32960
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy, Muscle weakness OMIM:254950
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation in muscle fiber lysosomes, Progres... ORPHA:368
Pyomyositis
Myositis, Recurrent cutaneous abscess formation ORPHA:764
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Muscular dystrophy, Abnormal circulating homocysteine concen... ORPHA:88618
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Upper limb muscle weakness, Lower limb muscle weakness, Hand muscle atrophy, Intrinsic hand muscl... OMIM:601462
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Facial diplegia, Foot dorsiflexo... ORPHA:171436
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Flex... ORPHA:171433
Infantile Refsum Disease
Progressive muscle weakness, Facial palsy ORPHA:772
Thymoma
Myositis, Rheumatoid arthritis, Glomerulonephritis, Ulcerative colitis ORPHA:99867
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Eczematoid... OMIM:620565
Juvenile Dermatomyositis
Skin rash, Elevated circulating creatine kinase concentration, Myositis, Arthritis, Calcinosis, E... ORPHA:93672
Combined Oxidative Phosphorylation Defect Type 27
Upper limb postural tremor, Ragged-red muscle fibers ORPHA:477774
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Arthrogryposis multiplex congenita, Flexion contracture, Increased endomysial ... ORPHA:178148
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Mildly elevated creatine... OMIM:258450
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, Elevated circulat... ORPHA:254886
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated circulating creatine ki... ORPHA:52430
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Progressive proximal muscle weakness, Myopathy, Limb-girdle muscular dystrophy ORPHA:369847
Adrenal Hypoplasia, Congenital
Hyponatremia, Muscular dystrophy OMIM:300200
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Type 2 muscle fiber atrophy, Facial palsy, Arthro... OMIM:608931
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentra... OMIM:615418
Ataxia-Telangiectasia-Like Disorder 2
Joint contracture, Progressive muscle weakness, Congenital diaphragmatic hernia, Muscle weakness OMIM:615919
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Limb muscle weakness, Weakness of facial musculature, Type 2 muscle fiber atrophy, Facial palsy, ... OMIM:608930
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy... OMIM:255125
Palmoplantar Carcinoma, Multiple Self-Healing
Amyloidosis, Cutaneous macular amyloidosis OMIM:615225
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Amyoplasia... OMIM:181405
Aa Amyloidosis
Renal amyloidosis, Amyloidosis ORPHA:85445
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy OMIM:605809
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Microsporidiosis
Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Osteomyelitis, Infectious encephalitis... ORPHA:2552
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive external ophthalmoplegia, Progressive muscle weakness, Limb muscle weakness, Facial p... OMIM:610131
Dpm1-Cdg
Camptodactyly, Muscular dystrophy, Knee flexion contracture, Elevated circulating creatine kinase... ORPHA:79322
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture, Elevated circulating creatine kinase concentration OMIM:620240
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Proximal amyotrophy... OMIM:615084
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy OMIM:254210
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture, Axial dystonia OMIM:619026
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Ragged-red muscle fibers, Increased intramyocellular lipid drople... OMIM:252011
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Elbow flexion contract... OMIM:619461
Dk1-Cdg
Progressive muscle weakness ORPHA:91131
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi... OMIM:616866
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Gowers sign, Shoulder girdle muscle weakness, Generalized limb muscle atrophy, N... ORPHA:98908
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Spastic Paraplegia Type 7
Upper limb muscle weakness, Ragged-red muscle fibers, Lower limb muscle weakness, Lower limb hype... ORPHA:99013
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98863
Pparg-Related Familial Partial Lipodystrophy
Myopathy, Hyperuricemia, Pancreatitis, Hypertriglyceridemia, Abnormality of skeletal muscle fiber... ORPHA:79083
Myasthenia, Limb-Girdle, Autoimmune
Hashimoto thyroiditis, Proximal amyotrophy, Type 2 muscle fiber atrophy, Mildly elevated creatine... OMIM:159400
Familial Partial Lipodystrophy, Dunnigan Type
Myopathy, Pancreatitis, Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, Skeletal... ORPHA:2348
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:261
Walker-Warburg Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Abnormal circulating c... ORPHA:899
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98853
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, Abnormal morpholo... ORPHA:600
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase concentration, Weakness ... ORPHA:352447
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Limb dystonia, Type 1 muscle fiber predominance, Hip contracture, Type... ORPHA:319514
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ... OMIM:253800
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy OMIM:540000
Coenzyme Q10 Deficiency, Primary, 1
Decreased level of coenzyme Q10 in skeletal muscle, Progressive muscle weakness, Ragged-red muscl... OMIM:607426
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Elevated circulating creatine ... OMIM:619424
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Myopathy, Progressive muscle weakness, Respiratory insufficiency due to ... OMIM:615512
Behçet Disease
Recurrent aphthous stomatitis, Infectious encephalitis, Myositis, Increased inflammatory response... ORPHA:117
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Progressive muscle weakness, Limb-girdle muscle weakness... ORPHA:79240
Glycogen Storage Disease Xv
Type 1 muscle fiber predominance, Scapular winging OMIM:613507
Amyloidosis, Finnish Type
Generalized amyloid deposition, Renal glomerular amyloid deposition, Cardiac amyloidosis OMIM:105120
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers OMIM:613662
Optic Atrophy 11
Mildly elevated creatine kinase, Increased variability in muscle fiber diameter, Facial diplegia,... OMIM:617302
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Hyperbilirubinemia, Cholecystitis, Myopathy, Redu... OMIM:611881
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Chronic otitis media, Type 1 muscle fiber predomi... OMIM:612949
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Muscular dystrophy ORPHA:300751
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Interosseus muscle atrophy, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Fibe... OMIM:500013
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness, Elevated circulati... OMIM:616479
Juvenile Amyotrophic Lateral Sclerosis
Arm dystonia, Distal amyotrophy, Skeletal muscle atrophy, Upper-limb joint contracture, Muscle fi... ORPHA:300605
Amyloidosis, Hereditary Systemic 1
Amyloidosis OMIM:105210
Aapoaiv Amyloidosis
Cutaneous amyloidosis, Renal interstitial amyloid deposits, Renal amyloidosis, Cardiac amyloidosis ORPHA:439232
Epidermolysis Bullosa Simplex With Pyloric Atresia
Muscular dystrophy, Flexion contracture, Elevated circulating creatine kinase concentration ORPHA:158684
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Increased serum pyruvate, Myopathy OMIM:604377
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Mildly elevated creatine kinase, Weakness of faci... ORPHA:502423
Primary Sjögren Syndrome
Arteritis, Parotitis, Chronic active hepatitis, Lymphocytic interstitial pneumonia, Myositis, Opt... ORPHA:289390
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Ragged-red muscle fibers ORPHA:1349
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy OMIM:616720
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter OMIM:615595
Dermatomyositis
Heliotrope rash, Inflammatory myopathy, Skin rash, Elevated circulating creatine kinase concentra... ORPHA:221
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:614643
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Foot dorsifle... OMIM:164310
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase... OMIM:616239
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Elevated circulating creatine ... OMIM:617675
Native American Myopathy
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Camptodactyly, Abnormality... ORPHA:168572
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased sarcoplasmic glycogen, Progressive muscle weakness, Skeletal muscle atrophy ORPHA:264580
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2671
Aicardi-Goutières Syndrome
Chilblains, Multiple joint contractures, Myositis, Arthritis, Panniculitis ORPHA:51
Glycerol Kinase Deficiency
Muscular dystrophy, Chronic pancreatitis, Myopathy, Hypertriglyceridemia, Hyperglycerolemia OMIM:307030
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormality of the extraocular muscles, Myositis, Keratoconjunctivitis sicca, Tubulointerstitial ... ORPHA:79078
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morphology ORPHA:3068
Tbck-Related Intellectual Disability Syndrome
Macroglossia, Progressive muscle weakness, Diastasis recti, Skeletal muscle atrophy ORPHA:488632
Severe Congenital Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Abno... ORPHA:171430
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Neutral Lipid Storage Disease With Ichthyosis
Shoulder girdle muscle weakness, Myopathy, Increased intramyocellular lipid droplets, Progressive... ORPHA:98907
Overlap Myositis
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Rheumatoid arthriti... ORPHA:206572
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Limb muscle weakness, Elevated c... OMIM:300257
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Muscular dystrophy, Congenital contracture, Elevated circulating creatine kinase concentration OMIM:236670
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Flexion contracture, Generalized muscle weakness, Diaphragmatic weakn... ORPHA:365
Polymyositis
Elevated circulating creatine kinase concentration, Pericarditis, Arthritis, Abnormal muscle fibe... ORPHA:732
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis ORPHA:98849
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Inflammatory abnormality of the skin, Abnormality of the shoulder girdle muscula... ORPHA:565612
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Progressive muscle weakness, Skeletal muscle atrophy, Distal muscle weakness OMIM:256810
Ehlers-Danlos Syndrome, Classic-Like, 1
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Elevated circulating creatine kinase concentration, Wrist flexion contr... OMIM:618733
Hypotonia-Cystinuria Syndrome
Facial palsy, Ragged-red muscle fibers OMIM:606407
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2461
Familial Mediterranean Fever
Renal amyloidosis, Amyloidosis OMIM:249100
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Macroglossia, Torticollis OMIM:617022
Q Fever
Amyloidosis ORPHA:781
Alkaptonuria
Tendon rupture, Thickened Achilles tendon, Amyloidosis ORPHA:56
Tetrasomy 9P
Myositis, Glue ear, Arthritis, Pericarditis ORPHA:3310
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis OMIM:301220
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Snakebite Envenomation
Muscle fiber necrosis, Rhabdomyolysis ORPHA:449285
Mitochondrial Neurogastrointestinal Encephalomyopathy
Foot dorsiflexor weakness, Ragged-red muscle fibers, Decreased muscle mass, Abnormality of the ex... ORPHA:298
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Congenital contracture, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Type 2 mus... OMIM:619036
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Rhabdomyosarcoma ORPHA:1052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:615287
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Abnormal muscle fiber morphology, Lower limb muscle weakness, Hypomagnesemi... ORPHA:79102
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Weakness of facial musculature, Type 2 muscle fiber atrophy, Gene... OMIM:602668
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Ragged-red muscle fibers... ORPHA:17
Familial Mediterranean Fever
Amyloidosis ORPHA:342
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Muscular dystrophy, Elevated circulating creatine kinase concentration OMIM:253280
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Ragged-red muscle fibers OMIM:614924
Congenital Myasthenic Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Distal lower limb mu... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Distal lower limb mu... ORPHA:98914
Combined Oxidative Phosphorylation Deficiency 58
Ragged-red muscle fibers, Exaggerated startle response OMIM:620451
Multiple Endocrine Neoplasia, Type Iia
Cutaneous lichen amyloidosis OMIM:171400
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Limb muscle weakness... ORPHA:254892
Lambert-Eaton Myasthenic Syndrome
Progressive proximal muscle weakness ORPHA:43393
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal amyotrophy, Ragged-red muscle fibers, Allodynia OMIM:603041
Attrv122I Amyloidosis
Tendon rupture, Left ventricular hypertrophy, Cardiac amyloidosis ORPHA:85451
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Elbow flexion contracture, Muscle fiber atrophy, Limb muscle weakness, EMG... ORPHA:1900
Multiple Endocrine Neoplasia Type 2
Cutaneous lichen amyloidosis, Proximal amyotrophy ORPHA:653
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis OMIM:134610
Familial Cold Autoinflammatory Syndrome 1
Renal amyloidosis OMIM:120100
Muckle-Wells Syndrome
Renal amyloidosis, Camptodactyly of finger ORPHA:575
Muckle-Wells Syndrome
Renal amyloidosis OMIM:191900
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Ragged-red muscle fibers ORPHA:255210
Melas
Ragged-red muscle fibers, Myopathy, Abnormal mitochondria in muscle tissue ORPHA:550
Mitochondrial Complex I Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:252010
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Choreoacanthocytosis
Blepharospasm, Peroneal muscle atrophy, Distal amyotrophy, Resting tremor, Laryngeal dystonia, Mu... ORPHA:2388
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Rhabdomyolysis OMIM:124000
Singleton-Merten Syndrome 1
Tendon rupture, Muscle fiber atrophy OMIM:182250
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Flexion contracture, Renal amyloidosis, Foot joint contracture ORPHA:79408
Lysinuric Protein Intolerance
Renal amyloidosis, Hepatic amyloidosis ORPHA:470

Histopathology

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

There is no histopathology data for Dysf

IMPC related publications

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

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

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

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