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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Dysf mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Muscular Dystrophy, Scapulohumeral
Muscle weakness, Scapulohumeral muscular dystrophy OMIM:600416
Muscular Dystrophy, Congenital, With Rapid Progression
Muscle weakness, Congenital muscular dystrophy OMIM:254100
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscle weakness, Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Muscular dystrophy, limb-girdle, type 2R
Facial palsy, Elbow flexion contracture, Muscular dystrophy, Scapular winging OMIM:615325
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Foot dorsiflexor weakness, Beevor's sign, Scapulohumeral muscular dystrophy, Facial palsy, Scapul... OMIM:158901
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Glycogen Storage Disease Xiii
Elevated circulating creatine kinase concentration, Increased muscle glycogen content OMIM:612932
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Flexion contracture, Increased endomysial connective tissue, Muscular dystrophy, Ankle flexion co... OMIM:617072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Muscular dystrophy, EMG: myopathic abnormalities, Distal muscle weakness... OMIM:608807
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, Muscular dystrophy, ... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, Increased variability in muscle fiber diameter, EMG: myopathic ab... OMIM:254110
Miyoshi Muscular Dystrophy 3
Distal muscle weakness, Muscular dystrophy, Calf muscle hypertrophy, Quadriceps muscle atrophy OMIM:613319
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... OMIM:617158
Vacuolar Neuromyopathy
Foot dorsiflexor weakness, Muscle fiber splitting, Muscular dystrophy, Elevated circulating creat... OMIM:601846
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Elevated circulating creatine kinase concentr... OMIM:613530
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG: ... OMIM:253601
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Rhabdomyolysis, Progressive muscle weakness, Progressive... ORPHA:399096
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Neck muscle weakness, Muscular dystrophy, Proximal muscle weakness, Proximal amyotrophy OMIM:612998
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Highly elevated creatine kinase, ... OMIM:618848
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... OMIM:613818
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Flexion contracture, Skeletal muscle atrophy, Gowers sign, Muscular dystrophy, Generalized muscle... OMIM:613723
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Muscular dystrophy, EMG: myopathic abnormalities, Calf muscle hypertrophy, Facial palsy, Proximal... OMIM:611307
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased endom... OMIM:619733
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Limb-girdle muscle weaknes... ORPHA:178400
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Proximal amyotroph... OMIM:253600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Limb-girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dystrophy, Proximal amyotro... OMIM:604286
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, EMG: myopathic abnormalities OMIM:600334
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Myopathy, Congenital muscular dystrophy, Arthrogryposis multiplex congenita OMIM:253900
Myopathy, Distal, 5
Muscle fiber splitting, Mildly elevated creatine kinase, Myopathy, Distal amyotrophy, Facial pals... OMIM:617030
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscle weakness, Muscular dystrophy OMIM:253590
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnor... ORPHA:2593
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Myopathy, ... OMIM:615422
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Highly elevated creatine kinase, Increased variability in muscle fiber diameter, Centrally nuclea... OMIM:618992
Myopathy, Myofibrillar, 2
Foot dorsiflexor weakness, Muscle fiber splitting, Limb-girdle muscle weakness, Muscular dystroph... OMIM:608810
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Muscle fiber splitting, Muscular dystrophy, Elevated circulating creatine ki... OMIM:603511
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalities, Autophagic vacuoles, Shoul... OMIM:608423
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Elevated circulati... OMIM:605820
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscle weakness, Muscular dystrophy, Gowers sign OMIM:616094
Myopathy, Myofibrillar, 4
Muscle fiber splitting, EMG: myopathic abnormalities, Progressive muscle weakness, Autophagic vac... OMIM:609452
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating cr... ORPHA:611
Welander Distal Myopathy
Rimmed vacuoles, Mildly elevated creatine kinase, Distal amyotrophy OMIM:604454
Muscular Dystrophy, Progressive Pectorodorsal
Muscular dystrophy, Scapular winging, Shoulder girdle muscle weakness OMIM:310095
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Spinal muscular atrophy, Proximal lower limb amyotrophy,... OMIM:158600
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle fiber dia... OMIM:613204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Scapular winging, Gowers sign, Muscular dystrophy, Proximal amyotrophy, Proximal muscle weakness,... OMIM:601287
Myopathy, Distal, 3
Muscular dystrophy, EMG: myopathic abnormalities, Mildly elevated creatine kinase, Distal amyotro... OMIM:610099
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Pelvic girdle muscle weakness, Abnormality of the Achilles tendon, Reduced muscle fiber alpha dys... ORPHA:34515
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Flexion limitation of toes, Proxi... OMIM:609115
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Muscular dystrophy, Generalized muscle weakness OMIM:613152
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... OMIM:609456
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:300717
Distal Nebulin Myopathy
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Nemaline bodies, Weakness of l... ORPHA:399103
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Weakness of the intrinsic hand mus... ORPHA:98912
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... OMIM:181350
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... OMIM:618940
Dpm3-Cdg
Muscular dystrophy, Elevated creatine kinase after exercise, Calf muscle hypertrophy, Rimmed vacu... ORPHA:263494
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Elevated circulating creatine kinase concentration, Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Hand muscle atrophy, Foot dorsiflexor weakness, Nemaline bodies, Ske... OMIM:616852
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Muscular dystrophy, Proximal muscle weakness, Skeletal muscle hypertrophy OMIM:613158
Mitochondrial Myopathy With A Defect In Mitochondrial-Protein Transport
Muscle weakness OMIM:251945
Episodic Muscle Weakness, X-Linked
Muscle weakness OMIM:300211
Central Core Disease Of Muscle
Nemaline bodies, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Ankle f... OMIM:117000
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Axial muscle weakness, Limb-girdle muscle weakness, Increased variabil... ORPHA:399058
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Progressive muscle weakness, Type 1 muscle fib... ORPHA:98902
Muscular Dystrophy, Congenital, 1B
Achilles tendon contracture, Diaphragmatic weakness, Generalized muscle hypertrophy, Gowers sign,... OMIM:604801
Myopathy, Myofibrillar, 5
Elevated circulating creatine kinase concentration, Muscle fiber cytoplasmatic inclusion bodies, ... OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Pr... OMIM:619566
Myopathy, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle atrophy, Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, General... OMIM:608358
Distal Myopathy, Welander Type
Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Intrinsic hand muscle atroph... ORPHA:603
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Myositis, Skeletal muscle atrophy, Proximal muscle weakness in lower limbs, Elevated circulating ... ORPHA:565899
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase concentration OMIM:609500
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Elevated circulating creatine kinase concentration, Proximal muscle weakness in lower limbs, Incr... ORPHA:1878
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Pelvic girdle amyotrophy, Scapular winging, Flexion contracture, Lower limb muscle weakness, Musc... ORPHA:267
Salih Myopathy
Flexion contracture, Elevated circulating creatine kinase concentration, Myopathy, Facial palsy, ... OMIM:611705
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Skeletal mus... OMIM:160150
Laing Early-Onset Distal Myopathy
Minicore myopathy, Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, EMG: myopa... ORPHA:59135
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... ORPHA:178464
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Elevated circulating creatine kinase concentration, Distal amyotroph... OMIM:609200
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Proximal amyotrophy, Elevated circulating... OMIM:500002
Muscular Dystrophy, Congenital, Lmna-Related
Elevated circulating creatine kinase concentration, Generalized amyotrophy, Flexion contracture, ... OMIM:613205
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Progressive muscle weakness, Weakness of long finger extensor... ORPHA:641
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Eleva... OMIM:255160
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Muscular dystrop... OMIM:609308
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Z-band streaming, Centrally nucleated skelet... OMIM:618823
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Elevated circulating creatine kinase concentration, Muscular dystrophy, Proximal amyotrophy OMIM:612999
Distal Myotilinopathy
Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Progre... ORPHA:98911
Nemaline Myopathy 5
Nemaline bodies, Proximal amyotrophy, Progressive muscle weakness, Type 1 muscle fiber predominan... OMIM:605355
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Foot dorsiflexor weakness, Facial hypotonia, Hip flexor weakness, Increased endomysial connective... ORPHA:266
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Muscular dystrophy, Increased variability in... ORPHA:86812
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Muscular dystrophy, Calf muscle pseudohypertr... OMIM:300376
Muscular Dystrophy, Congenital, Megaconial Type
Congenital muscular dystrophy, Gowers sign, Muscular dystrophy, Muscle weakness, Myopathy, Facial... OMIM:602541
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Proximal muscle weakness, Skeletal muscle hypertrophy, Gowers sign OMIM:613157
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Creatine Phosphokinase, Elevated Serum
Inflammatory myopathy, Muscular dystrophy, EMG: myopathic abnormalities, Elevated circulating cre... OMIM:123320
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers OMIM:614807
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Joint contracture of the... ORPHA:399086
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Inc... OMIM:616516
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Hypercholesterolemia, Intrinsic hand muscle atrophy, Incr... ORPHA:488650
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Neck muscle weakness, Muscular dystrophy, Proximal muscle weakness, Proximal amyotrophy OMIM:614302
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Elevated circulating creatine kinase concentration, Increased endomysial connective tissue, Flexi... OMIM:607855
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Weakness of facial musculature, Aspiration pneumonia, Scapular winging, ... OMIM:619477
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Elevated circulating creatine kinase... OMIM:615352
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Flexion contracture, Pneumonia, Skeletal muscle atrophy, Muscle fiber necrosis, Muscular dystroph... OMIM:253700
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Achilles tendon contracture, Scapular winging, Gowers sign, Muscular dystrophy, Calf muscle pseud... ORPHA:62
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture OMIM:613869
Immune-Mediated Necrotizing Myopathy
Myositis, Skeletal muscle atrophy, Muscle fiber necrosis, Proximal muscle weakness in lower limbs... ORPHA:206569
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Myopathy, Rimmed va... ORPHA:270
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:309930
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Myofibrillar myopathy, Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, ... ORPHA:34516
Focal Myositis
Elevated circulating creatine kinase concentration, Myositis ORPHA:48918
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Muscular dystrophy, Macroglossia, Elevated circulating creatine kinase c... OMIM:616827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Elevated circulating creatine kinase... OMIM:615350
Carnitine Deficiency, Myopathic
Reduced muscle carnitine level, Myopathy, Decreased plasma carnitine OMIM:212160
Bethlem Myopathy 2
Flexion contracture, Increased variability in muscle fiber diameter, Elevated circulating creatin... OMIM:616471
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Elevated circulat... OMIM:612937
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Muscular dystrophy, Centrally nucleated skeletal muscle fibers OMIM:617066
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contractur... ORPHA:280333
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Myopathy, Myofibrillar, 6
Generalized amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Knee flexion contractur... OMIM:612954
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Increased serum pyruvate, Weakness of facial musculature, Increased intramyocellular lipid droplets OMIM:619062
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb muscle weakness, E... OMIM:616812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Elevated circulating creatine kinase concentration, Muscular dystrophy, Congenital muscular dystr... OMIM:613151
Congenital Muscular Dystrophy Without Intellectual Disability
Achilles tendon contracture, Limb-girdle muscle atrophy, Congenital muscular dystrophy, Reduced m... ORPHA:370980
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Muscular dystrop... OMIM:611588
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy OMIM:254000
Myositis
Myositis OMIM:160750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Muscular dystrophy OMIM:615041
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Axial muscle weakness, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness... ORPHA:663
Nemaline Myopathy 6
Nemaline bodies, Myopathy, Limb muscle weakness OMIM:609273
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscle fiber splitting, Proximal amyotrophy, Elevated circulating creatine kinase concentration, ... OMIM:618129
Desminopathy
Axial muscle weakness, Fatigable weakness of bulbar muscles, Progressive muscle weakness, Fatigab... ORPHA:98909
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Type 2 muscle fiber atrophy, Flexion contracture, Increas... OMIM:160565
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Achilles tendon contracture, Congenital muscular dystrophy, Muscular dystrophy, EMG: myopathic ab... OMIM:608840
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Congenital muscular dystrophy, Proxim... ORPHA:598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Flexion contracture, Congenital muscular dystrophy, Muscular dystrophy, Macroglossia, Elevated ci... OMIM:613155
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Muscle fiber splitting, Lower limb muscle weakness, Ragged-red muscle fibe... OMIM:616924
Proximal Myopathy With Extrapyramidal Signs
Central core regions in muscle fibers, Increased variability in muscle fiber diameter, Mildly ele... ORPHA:401768
Myopathy, X-Linked, With Postural Muscle Atrophy
Elevated circulating creatine kinase concentration, Rimmed vacuoles, Scapular winging, Flexion co... OMIM:300696
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Weakness of long finger extensor muscles, Ragged-red muscle fibe... OMIM:160500
Duchenne Muscular Dystrophy
Flexion contracture, Skeletal muscle atrophy, Progressive muscle weakness, Proximal muscle weakne... ORPHA:98896
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy OMIM:158800
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Myopathy, Abnormal circulating creatine kinas... ORPHA:369840
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Intrinsic hand muscle atrophy, Ragged-red muscle fibers,... ORPHA:276435
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Centrally nucleated skeletal muscle fibers, Arthrogryposis multiplex congeni... OMIM:618484
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Macroglossia, Elevated c... OMIM:616052
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Distal lower limb muscle weakness, Foot dorsiflexor weakness, Proximal lower limb amyotrophy, Mus... ORPHA:437572
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture OMIM:613154
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscle fiber minic... OMIM:255320
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... OMIM:603689
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:300718
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Increased variability in muscle fiber diameter, Flexion contracture, Congenital mus... OMIM:616470
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Fatigable weakness of bulbar ... ORPHA:98897
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Flexion contracture, Congenital muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Musc... OMIM:615351
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Shoulder girdle muscle atrophy, External ophthalmoplegia, Beevor's sign,... OMIM:158900
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Bethlem Myopathy
Axial muscle weakness, Gowers sign, Muscle weakness, Reduced muscle collagen VI, Scapular winging... ORPHA:610
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, Multiple joint contractures, Increased variability in muscle fiber diameter, E... ORPHA:486815
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Increased variability in muscle... ORPHA:171442
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities OMIM:609283
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Pneumonia, Type 1 fibers relatively smaller than type 2 fibers, ... ORPHA:596
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Muscular dystrophy OMIM:204730
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Increased varia... OMIM:618138
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... OMIM:619473
Amyotrophic Lateral Sclerosis 8
Distal muscle weakness, Proximal muscle weakness, Progressive muscle weakness, Skeletal muscle at... OMIM:608627
Hereditary Continuous Muscle Fiber Activity
Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Type 1 muscl... ORPHA:972
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Internally nucl... OMIM:618654
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Elevated circulating creatine kinase concentration, Rimmed vacuoles, Centrally nucleated skeletal... OMIM:619518
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Progressive muscle weakness OMIM:619024
Zebra Body Myopathy
Nemaline bodies, Limb-girdle muscular dystrophy, Muscle fiber splitting, Muscle fiber necrosis, E... ORPHA:97240
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Axial muscle weakness, Congenital muscular dystrophy, EMG: myopathic abnormalities, Limb muscle w... OMIM:601170
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Axial muscle atrophy, Decreased cervical spine flexion due to contra... ORPHA:254361
Myopathy And Diabetes Mellitus
Achilles tendon contracture, Skeletal myopathy, Sternocleidomastoid amyotrophy, Weakness of facia... ORPHA:2596
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Type 2 muscle fiber atrophy, Viral infection-induced rha... ORPHA:99845
Merrf
Ragged-red muscle fibers, Myopathy ORPHA:551
Myopathy, Centronuclear, 2
Flexion contracture, Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular... OMIM:255200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Muscular dystrophy OMIM:614830
Myasthenic Syndrome, Congenital, 14
Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Mildly elevated creat... OMIM:616228
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Mitochondrial Myopathy, Infantile, Transient
Muscle fiber hypertrophy, Ragged-red muscle fibers, Increased serum pyruvate, Increased muscle li... OMIM:500009
Digital Extensor Muscle Aplasia-Polyneuropathy
Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of finger, Muscular dystroph... ORPHA:2926
Severe X-Linked Mitochondrial Encephalomyopathy
Increased variability in muscle fiber diameter, Increased serum pyruvate, Skeletal muscle atrophy ORPHA:238329
Lethal Congenital Contracture Syndrome 5
Elevated circulating creatine kinase concentration, Flexion contracture, Centrally nucleated skel... OMIM:615368
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Increased inflammatory response, Acne, Pustule, Arthritis ORPHA:69126
Glycogen Storage Disease Ixb
Increased muscle glycogen content OMIM:261750
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy, Increased serum pyruvate OMIM:545000
Idiopathic Camptocormia
Myositis, Abnormal muscle fiber dysferlin, EMG: myopathic abnormalities, Osteoarthritis, Elevated... ORPHA:1320
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Rimmed vacuoles, Calf muscle hypertrophy, Skeletal muscle atrophy OMIM:617760
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... OMIM:300580
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, A... ORPHA:98905
Nemaline Myopathy 2
Nemaline bodies, Flexion contracture, Sternocleidomastoid amyotrophy, Foot dorsiflexor weakness, ... OMIM:256030
Rigid Spine Muscular Dystrophy 1
Minicore myopathy, Flexion contracture, Type 1 and type 2 muscle fiber minicore regions, Generali... OMIM:602771
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Increased endomysial connective tissue, Increased variability in mus... ORPHA:353
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Facial palsy, Type 1 muscle fiber predominance ORPHA:178145
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Skeletal muscle atrophy, Lower limb muscle weakness, Abnormal circulating lipid c... OMIM:615980
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Dystonia, Increased intramyocellular lipid droplets OMIM:619065
Myopathy, Congenital, With Fiber-Type Disproportion
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r... OMIM:255310
Eosinophilic Fasciitis
Fasciitis, Myositis, Arthritis, Muscular edema ORPHA:3165
Peroxisome Biogenesis Disorder 11B
Muscle weakness, Progressive muscle weakness OMIM:614885
Myopathy, Distal, 4
Skeletal muscle atrophy, Muscle weakness, Abnormality of the calf musculature, Myopathy, Distal u... OMIM:614065
Myopathy, Myofibrillar, 8
Achilles tendon contracture, Nemaline bodies, Generalized amyotrophy, Joint contracture of the 5t... OMIM:617258
Combined Oxidative Phosphorylation Deficiency 6
Ragged-red muscle fibers, Increased serum pyruvate, Skeletal muscle atrophy OMIM:300816
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Lower limb muscle weakness, Pro... OMIM:613954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Congenital muscular dystrophy, Muscular dystrophy, Macroglossia, Elevated ci... OMIM:613156
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Elevated circulating creatine kinase concentratio... ORPHA:119
Marinesco-Sjogren Syndrome
Flexion contracture, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration,... OMIM:248800
Variant Abeta2M Amyloidosis
Amyloidosis of peripheral nerves, Abnormal skeletal muscle morphology, Cutaneous amyloidosis, Car... ORPHA:314652
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Spinal muscular atrophy, Bulbar palsy, Muscle weakness, Distal muscle we... ORPHA:254875
King-Denborough Syndrome
Minicore myopathy, Type 1 muscle fiber predominance, Elevated circulating creatine kinase concent... OMIM:619542
Autosomal Recessive Centronuclear Myopathy
Left ventricular hypertrophy, Scapular winging, Gowers sign, Generalized amyotrophy, Progressive ... ORPHA:169186
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression, Decreased circulating ferritin concentration ORPHA:330054
Ataxia-Oculomotor Apraxia Type 4
Distal lower limb muscle weakness, Progressive distal muscular atrophy, Muscular dystrophy ORPHA:459033
Myopathy, Distal, With Anterior Tibial Onset
Distal muscle weakness, Myopathy, Distal amyotrophy OMIM:606768
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Lower limb muscle weakness, Increased variability in muscle fiber diameter, EMG: myopathic abnorm... ORPHA:397744
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Muscle fiber necrosis, Increased variability in muscle fiber diameter, EMG: myopathic abnormaliti... OMIM:614399
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Skeletal muscle atr... OMIM:617070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Congenital muscular dystrophy, Shoulder girdle muscle atrophy, EMG: ... OMIM:606612
Congenital Muscular Dystrophy, Ullrich Type
Flexion contracture, Increased endomysial connective tissue, Increased variability in muscle fibe... ORPHA:75840
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Hypoglycosylation of alpha-dyst... ORPHA:352479
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy ORPHA:1875
Nemaline Myopathy 4
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Facial diplegia, Limb muscle weakn... OMIM:609285
Myeloma, Multiple
Amyloidosis OMIM:254500
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diameter, Facial dipl... ORPHA:171439
Congenital Muscular Dystrophy, Fukuyama Type
Flexion contracture, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Myopathy, Campt... ORPHA:272
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration, Myopathy ORPHA:88635
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Central Core Disease
Nemaline bodies, Multiple joint contractures, Type 1 muscle fiber predominance, Elevated circulat... ORPHA:597
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy OMIM:611556
Miyoshi Myopathy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Proximal amyotrophy, Distal u... ORPHA:45448
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, EMG: myopathic ... ORPHA:169189
Motor Neuropathy, Peripheral, With Dysautonomia
Progressive muscle weakness, Skeletal muscle atrophy OMIM:252320
Proteasome-Associated Autoinflammatory Syndrome 4
Panniculitis, Myositis, Flexion contracture, Skeletal muscle atrophy OMIM:619183
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Myopathy OMIM:616816
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Triceps weakness, Centrally nucleated s... OMIM:619574
Myopathy, Myofibrillar, 7
Achilles tendon contracture, Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Mul... OMIM:617114
Ullrich Congenital Muscular Dystrophy 1
Flexion contracture, Congenital muscular dystrophy, Muscle fiber necrosis, Generalized amyotrophy... OMIM:254090
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... OMIM:310300
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Dystonia, Shoulder girdle muscle atrophy, Limb muscle weakness, Myopath... OMIM:167320
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Decreased plasma carnitine, Mildly elevated creatine kinase, Macrogloss... ORPHA:254864
Pyoderma Gangrenosum
Rheumatoid arthritis, Myositis, Pustule, Inflammation of the large intestine ORPHA:48104
Nemaline Myopathy 1
Nemaline bodies, Flexion contracture, Shoulder girdle muscle atrophy, EMG: myopathic abnormalitie... OMIM:609284
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Nemaline bodies, Scapular winging OMIM:617336
Periodic Fever, Familial, Autosomal Dominant
Erysipelas, Myositis, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Skin rash OMIM:142680
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Progressive muscle weakness, Generalized amyotr... OMIM:613561
Myopathy, Proximal, With Ophthalmoplegia
Muscle fiber inclusion bodies, Myopathy, Scapular winging, Congenital contracture OMIM:605637
Hypokalemic Periodic Paralysis, Type 1
Episodic flaccid weakness, Muscle weakness, Myopathy OMIM:170400
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Congenital muscular dystrophy, Multiple joint contractures, Genera... ORPHA:324604
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Punctate keratitis, Muscular dystrophy, Keratitis OMIM:226670
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Increased muscle lipid content, Myopathy, Hyp... OMIM:610717
Coenzyme Q10 Deficiency, Primary, 4
Increased intramyocellular lipid droplets, Tremor OMIM:612016
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrop... ORPHA:206559
Graft Versus Host Disease
Myositis, Pneumonia, Gastrointestinal inflammation, Skeletal muscle atrophy, Inflammatory abnorma... ORPHA:39812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:615181
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Skeletal muscle atrophy, Elevated circulating C-reactive protein concentration, Pustula... OMIM:615934
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Absent muscle dystrophin expression, Abnormality of the shoulder girdle musculature, Elevated cir... ORPHA:206546
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Flexion contracture, Congenital muscular dystrophy, Absent muscle fiber merosin, Highly... ORPHA:258
Glycerol Kinase Deficiency
Hypertriglyceridemia, Muscular dystrophy, Myopathy OMIM:307030
Antisynthetase Syndrome
Myositis, Myocarditis, Elevated circulating creatine kinase concentration, Keratoconjunctivitis s... ORPHA:81
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Abnormal muscle fiber morphology, Increase... ORPHA:681
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness OMIM:300076
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, EMG: myopathic abnormalities, Progressive muscle weakness, Limb muscle ... OMIM:609286
Mitochondrial Complex I Deficiency, Nuclear Type 25
Nemaline bodies, Myopathy OMIM:618246
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia, Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Increased serum pyruvate OMIM:616794
Congenital Myasthenic Syndromes With Glycosylation Defect
Flexion contracture, Limb-girdle muscle weakness, Ragged-red muscle fibers, Generalized weakness ... ORPHA:353327
Bacterial Toxic-Shock Syndrome
Sinusitis, Myositis, Recurrent skin infections, Pneumonia, Elevated circulating creatinine concen... ORPHA:36234
Glycogen Storage Disease Due To Aldolase A Deficiency
Viral infection-induced rhabdomyolysis, Skeletal myopathy, Hyperkalemia, EMG: myopathic abnormali... ORPHA:57
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Ragged-red muscle fibers, Generalized amyotrophy, Increased variability in... OMIM:258450
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Patent ductus arteriosus, Skeletal muscle atrophy, Increased variability in ... OMIM:616867
Muscular Dystrophy, Duchenne Type
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture, Calf... OMIM:310200
Amyotrophic Lateral Sclerosis 21
Increased variability in muscle fiber diameter, Hand muscle weakness, Elevated circulating creati... OMIM:606070
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Myopathy OMIM:125250
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:619334
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Congenital muscular dystrophy ORPHA:324416
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Myopathic Ehlers-Danlos Syndrome
Flexion contracture, Contractures involving the joints of the feet, Elbow flexion contracture, Mu... ORPHA:536516
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Flexion contracture, Conjunctivitis, Panniculitis, Hypertriglyceridemia, Art... OMIM:617591
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Limb muscle weakness, Knee flexion contracture, Weakness of f... OMIM:610687
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Generalized amyotrophy, EMG: myopathic abnormalities, Limb muscle weakn... OMIM:609560
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Skeletal muscle atrophy, Spinal muscular atrophy, Ankle flexion contractur... ORPHA:1145
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers, Lingual dystonia OMIM:500003
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Multiple joint contractures, EMG: myopathic abnormalities, Type 1 muscle fiber... ORPHA:424107
Nemaline Myopathy 8
Facial palsy, Nemaline bodies, Flexion contracture, Myofibrillar myopathy OMIM:615348
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Muscular dystrophy, Myopathy, Abnormal circulating creatine kinase conce... ORPHA:559
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Pelvic girdle muscle weakness, Congenital muscular dystrophy, Thigh ... OMIM:607155
Congenital Disorder Of Glycosylation, Type Ie
Patent ductus arteriosus, Muscular dystrophy, Ankle flexion contracture, Knee flexion contracture... OMIM:608799
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Skeletal muscle atrophy ORPHA:480
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Rhabdomyolysis, Elevated circulating acylcarnitine concentration, Tubulointerstitial nephritis, E... ORPHA:228302
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Membranous nephropathy, Hepatitis, Inflammatory abnormality of the skin, Hypomagnesemia, Crusting... ORPHA:37042
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Rhabdomyolysis, Skeletal muscle atrophy, Muscle fiber necrosis, Ragged-red muscle fibers, Increas... OMIM:157640
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Generalized limb muscle atrophy, Progressive muscle weakness OMIM:600462
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Whipple Disease
Myositis, Uveitis, Hyponatremia, Infectious encephalitis, Myocarditis, Pericarditis, Arthritis ORPHA:3452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:615287
Sweet Syndrome
Myositis, Acne inversa, Elevated circulating C-reactive protein concentration, Acne, Inflammation... ORPHA:3243
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Tremor OMIM:619028
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Hypotrophy of the small hand mus... OMIM:607684
Adult-Onset Distal Myopathy Due To Vcp Mutation
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Fatty replacement of skeletal ... ORPHA:329478
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 2 muscle fiber atrophy, Generalized amyotrophy, Ankle flexion contracture, Type 1 muscle fib... OMIM:617519
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Decreased muscle mass, Myopathy, Limb muscle weakness OMIM:603034
Arts Syndrome
Progressive muscle weakness OMIM:301835
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Muscle fiber necrosis, Ragged-red muscle fibers, Generalized amyotrophy,... OMIM:607459
Myasthenia Gravis
Hashimoto thyroiditis, Myositis, Hepatitis, Rheumatoid arthritis ORPHA:589
Typical Nemaline Myopathy
Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Limb-girdle muscle weakness, Inc... ORPHA:171436
Cap Myopathy
Lower limb amyotrophy, Lower limb muscle weakness, Generalized amyotrophy, Increased variability ... ORPHA:171881
Pediatric Systemic Lupus Erythematosus
Myositis, Malar rash, Nephritis, Discoid lupus rash, Arthritis, Skin rash ORPHA:93552
Mixed Connective Tissue Disease
Myositis, Gastritis, Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Arthritis, Skin rash ORPHA:809
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myositis, Increased inflammatory response, Myocarditis, Tubulointerstitial nephritis, ... ORPHA:183
Congenital Fiber-Type Disproportion Myopathy
Foot dorsiflexor weakness, Flexion contracture, Elbow flexion contracture, Hypoplasia of the musc... ORPHA:2020
Intermediate Nemaline Myopathy
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, EMG: myopathic abnormalities, Type... ORPHA:171433
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erysipelas, Myositis, Uveitis, Arthritis, Orchitis, Peritonitis, Elevated circulating C-reactive ... ORPHA:32960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture OMIM:615249
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Generalized amyotrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnormalit... ORPHA:52430
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Flexion contracture, Dystonia, Ragged-red muscle fibers, Abnormal... OMIM:252011
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Muscle weakness, Skeletal muscle atrophy OMIM:254950
Fusariosis
Sinusitis, Myositis, Pneumonia, Peritonitis, Maculopapular exanthema, Fasciitis, Bronchiectasis, ... ORPHA:228119
Ataxia-Telangiectasia-Like Disorder 2
Muscle weakness, Flexion contracture, Progressive muscle weakness OMIM:615919
Autosomal Recessive Progressive External Ophthalmoplegia
Optic neuritis, Ragged-red muscle fibers, Hand muscle weakness, Elevated circulating creatine kin... ORPHA:254886
Thymoma
Rheumatoid arthritis, Ulcerative colitis, Myositis, Glomerulonephritis ORPHA:99867
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Muscular dystrophy, Increased variability in muscle fiber diameter, Macroglossia, Elevated circul... OMIM:613150
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Scapuloperoneal amyotrophy, Peroneal muscle atrophy, Peroneal muscle weak... OMIM:181405
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Muscle weakness, Progressive proximal muscle weakness, I... ORPHA:368
Pyomyositis
Myositis, Recurrent cutaneous abscess formation ORPHA:764
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakness, Limb muscle weak... OMIM:610131
Juvenile Dermatomyositis
Myositis, Elevated circulating C-reactive protein concentration, Elevated circulating creatine ki... ORPHA:93672
Palmoplantar Carcinoma, Multiple Self-Healing
Cutaneous macular amyloidosis, Amyloidosis OMIM:615225
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Facial ... OMIM:608931
Infantile Refsum Disease
Facial palsy, Progressive muscle weakness ORPHA:772
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Skeletal muscle atrophy, Ragged-red muscle fibers, EMG: myopathic ab... OMIM:615418
Congenital Muscular Dystrophy With Cerebellar Involvement
Congenital muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Reduced muscle fiber alph... ORPHA:370959
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Type 2 muscle fiber atrophy OMIM:601462
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Upper limb postural tremor ORPHA:477774
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita OMIM:254210
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98855
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Myopathy, Limb muscle weakness OMIM:605809
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Limb muscle weakness OMIM:606842
Amyloidosis, Familial Visceral
Generalized amyloid deposition OMIM:105200
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Muscular dystrophy, Hypermethioninemia, Elevated circulating creatine kinase... ORPHA:88618
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Flexion contracture, Arthrogryposis mu... ORPHA:178148
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance OMIM:619173
Atrial Standstill
Muscular dystrophy, Left ventricular noncompaction, Flexion contracture, Skeletal muscle atrophy ORPHA:1344
Aa Amyloidosis
Amyloidosis, Renal amyloidosis ORPHA:85445
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Myopathy, Progressive proximal muscle weakness, Limb-girdle muscular dystrophy ORPHA:369847
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Progressive muscle weakness OMIM:607426
Microsporidiosis
Sinusitis, Myositis, Pneumonia, Lymphadenitis, Cholangitis, Infectious encephalitis, Peritonitis,... ORPHA:2552
Pparg-Related Familial Partial Lipodystrophy
Abnormality of skeletal muscle fiber size, Hyperuricemia, Myopathy, Skeletal muscle hypertrophy, ... ORPHA:79083
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Facial palsy, Arthrogryposis multiplex congenita OMIM:608930
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture, Axial dystonia OMIM:619026
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Myopathy, Skeletal muscle hypertrophy, Hypertriglyceri... ORPHA:2348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:616538
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Knee flexion contractu... OMIM:619461
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Decreased cervical spine fl... ORPHA:98853
Adrenal Hypoplasia, Congenital
Muscular dystrophy, Hyponatremia OMIM:300200
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ragged-red muscle fibers, Generalized amyotrophy, Elevated circulating creatine kinase concentrat... ORPHA:352447
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Hashimoto thyroiditis, Mildly elevated creatine kinase, Proximal amy... OMIM:159400
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers, Dystonia OMIM:614924
Dk1-Cdg
Progressive muscle weakness ORPHA:91131
Myopathy With Lactic Acidosis, Hereditary
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myopathy, Increased intramyoc... OMIM:255125
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Mildly elevated creatine kinase, Abnormal morphology of m... ORPHA:600
Nemaline Myopathy 3
Nemaline bodies, EMG: myopathic abnormalities, Limb muscle weakness, Type 1 muscle fiber predomin... OMIM:161800
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Flexion contracture, Patent ductus arteriosus, Generalized amyotrophy, Increased variability in m... OMIM:616866
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Postsynaptic Congenital Myasthenic Syndromes
Weakness of the intrinsic hand muscles, Abnormality of the musculature of the upper limbs, Abnorm... ORPHA:98913
Dpm1-Cdg
Elevated circulating creatine kinase concentration, Camptodactyly, Muscular dystrophy, Knee flexi... ORPHA:79322
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Ragged-red muscle fibers, Left ventricular hypertrophy, Myopathy OMIM:540000
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concentration, Skel... OMIM:613327
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Limb-girdle muscle weakness, Progressive muscle weakness... ORPHA:370
Glycogen Storage Disease Vii
Gout, Increased muscle glycogen content, Increased total bilirubin, Hyperuricemia OMIM:232800
Neutral Lipid Storage Myopathy
Foot dorsiflexor weakness, Gowers sign, Hand muscle weakness, Generalized limb muscle atrophy, Ne... ORPHA:98908
Walker-Warburg Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Abnormal circulating c... ORPHA:899
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
Spastic Paraplegia Type 7
Lower limb muscle weakness, Ragged-red muscle fibers, Lower limb hypertonia, Upper limb muscle we... ORPHA:99013
Behçet Disease
Optic neuritis, Myositis, Arthritis, Orchitis, Infectious encephalitis, Increased inflammatory re... ORPHA:117
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Limb-girdle muscle weakness, Progressive muscle weakness... ORPHA:79240
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Progressive muscle weakness, Muscle weakness, Respiratory insufficiency ... OMIM:615512
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter, EMG: m... ORPHA:502423
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Skeletal muscle atrophy, Increased intramyocellular lipid droplets OMIM:614487
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Elevated circulating creatine kinase concentration, Facial palsy, Type 1 fibers relatively smalle... OMIM:619424
Combined Oxidative Phosphorylation Defect Type 13
Type 2 muscle fiber atrophy, Ankle flexion contracture, Limb dystonia, Type 1 muscle fiber predom... ORPHA:319514
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Thenar muscle atrophy, Interosseus muscle atrophy, Fiber type grouping, Distal lower limb muscle ... OMIM:500013
Juvenile Amyotrophic Lateral Sclerosis
Opisthotonus, Dystonia, Contractures of the joints of the upper limbs, Axial dystonia, Skeletal m... ORPHA:300605
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Muscular dystrophy ORPHA:300751
Greig Cephalopolysyndactyly Syndrome
Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand OMIM:175700
Primary Sjögren Syndrome
Optic neuritis, Myositis, Erythema nodosum, Parotitis, Chronic hepatitis, Glomerulonephritis, Tub... ORPHA:289390
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Arthrogryposis multiplex cong... ORPHA:168572
Myopathy, Mitochondrial, And Ataxia
Elevated circulating creatine kinase concentration, Increased variability in muscle fiber diamete... OMIM:617675
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Increased serum pyruvate ORPHA:1349
Oculopharyngodistal Myopathy 1
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, EMG: myopathic abnorma... OMIM:164310
Aapoaiv Amyloidosis
Cutaneous amyloidosis, Cardiac amyloidosis, Renal amyloidosis, Renal interstitial amyloid deposits ORPHA:439232
Epidermolysis Bullosa Simplex With Pyloric Atresia
Elevated circulating creatine kinase concentration, Muscular dystrophy, Flexion contracture ORPHA:158684
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Myotonic Dystrophy 2
Type 2 muscle fiber atrophy, Elevated circulating creatine kinase concentration OMIM:602668
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Abnormal muscle fiber morphology, Skeletal muscle atrophy ORPHA:3068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:614643
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Progressive muscle weakness, Increased sarcoplasmic glycogen, Skeletal muscle atrophy ORPHA:264580
Severe Congenital Nemaline Myopathy
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Abnormality of the diaphragm, Type... ORPHA:171430
Aicardi-Goutières Syndrome
Myositis, Chilblains, Multiple joint contractures, Panniculitis, Arthritis ORPHA:51
Overlap Myositis
Proximal muscle weakness in upper limbs, Abnormal circulating lipid concentration, Rheumatoid art... ORPHA:206572
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Foot dorsiflexor weakness, Decreased muscle glycogen content, EMG: myopathic abnormalities, Upper... ORPHA:263297
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Abnormality of the extraocular muscles, Tubulointerstitial nephritis, Thyroiditis, Kera... ORPHA:79078
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Progressive muscle weakness, Diastasis recti, Macroglossia ORPHA:488632
Neu-Laxova Syndrome
Flexion contracture, Skeletal muscle atrophy, Muscular dystrophy, Arthrogryposis multiplex congen... ORPHA:2671
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Flexion contracture, Congenital muscular dystrophy, Skeletal muscle atrophy, Elevated circulating... OMIM:253800
Triglyceride Deposit Cardiomyovasculopathy
Skeletal myopathy, Hyperlipidemia, Abnormality of the shoulder girdle musculature, Elevated circu... ORPHA:565612
Neutral Lipid Storage Disease With Ichthyosis
EMG: myopathic abnormalities, Myopathy, Progressive proximal muscle weakness, Increased intramyoc... ORPHA:98907
Polymyositis
Elevated circulating creatine kinase concentration, Arthritis, Abnormal muscle fiber morphology, ... ORPHA:732
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis ORPHA:98849
Glycogen Storage Disease Due To Acid Maltase Deficiency
Flexion contracture, Diaphragmatic weakness, Facial hypotonia, Gowers sign, Lower limb muscle wea... ORPHA:365
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Skeletal muscle atrophy, Abnormal muscle glycogen content, Myopathy, Hypoalb... ORPHA:367
Snakebite Envenomation
Muscle fiber necrosis, Rhabdomyolysis, Hyponatremia ORPHA:449285
Mitochondrial Neurogastrointestinal Encephalomyopathy
Foot dorsiflexor weakness, Abnormality of the extraocular muscles, Ragged-red muscle fibers, Decr... ORPHA:298
Neuromuscular Oculoauditory Syndrome
Muscle fiber necrosis, EMG: myopathic abnormalities, Knee flexion contracture, Elevated circulati... OMIM:618733
Familial Mediterranean Fever
Amyloidosis, Renal amyloidosis OMIM:249100
Q Fever
Amyloidosis ORPHA:781
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Ragged-red muscle fibers, Distal amyotrophy OMIM:603041
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis OMIM:301220
Marden-Walker Syndrome
Skeletal muscle atrophy, Muscular dystrophy, Arthrogryposis multiplex congenita, Aplasia/Hypoplas... ORPHA:2461
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber atrophy, Type 2 muscle fiber predominance, Type 1 muscle fiber atrophy, Conge... OMIM:619036
Tetrasomy 9P
Myositis, Arthritis, Pericarditis ORPHA:3310
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Rhabdomyolysis, Transient hypophosphatemia, Lower limb muscle weakness, Hyp... ORPHA:79102
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Rhabdomyolysis, Flexion contracture, Patent ductus arteriosus, Skeletal muscle atrophy, Ragged-re... ORPHA:17
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Rhabdomyosarcoma ORPHA:1052
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Elevated circulating creatine kinase concentration, Congenital muscular dystrophy, Congenital con... OMIM:236670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Elevated circulating creatine kinase concentration, Muscular dystrophy OMIM:253280
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Rhabdomyolysis, Tubulointerstitial nephritis, Cholangitis OMIM:124000
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Di... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Di... ORPHA:98914
Synaptic Congenital Myasthenic Syndromes
Type 2 muscle fiber atrophy, Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber p... ORPHA:98915
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy OMIM:613845
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Decreased plasma total carnitine, Elevated circulating creatinine concentration, Elevated circula... OMIM:608836
Multiple Endocrine Neoplasia, Type Iia
Cutaneous lichen amyloidosis OMIM:171400
Autosomal Dominant Progressive External Ophthalmoplegia
Left ventricular hypertrophy, Resting tremor, Ragged-red muscle fibers, EMG: myopathic abnormalit... ORPHA:254892
Lambert-Eaton Myasthenic Syndrome
Progressive proximal muscle weakness ORPHA:43393
Congenital Ptosis
Increased muscle lipid content, Congenital facial diplegia, Congenital fibrosis of extraocular mu... ORPHA:91411
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Weakness of facial musculature, Increased intramyocellular lipid droplets OMIM:220110
Multiple Acyl-Coa Dehydrogenase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Hepatic periportal necrosis, Increased intramyocellular ... ORPHA:26791
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Elbow flexion contracture, Muscle fiber atrophy, EMG: myopathic abnormalities, Limb muscle weakne... ORPHA:1900
Multiple Endocrine Neoplasia Type 2
Cutaneous lichen amyloidosis, Proximal amyotrophy ORPHA:653
Attrv122I Amyloidosis
Tendon rupture, Cardiac amyloidosis, Left ventricular hypertrophy ORPHA:85451
Familial Cold Autoinflammatory Syndrome 1
Renal amyloidosis OMIM:120100
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis OMIM:134610
Mitochondrial Dna-Associated Leigh Syndrome
Ragged-red muscle fibers, Dystonia ORPHA:255210
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Proximal muscle weakness in ... ORPHA:268
Muckle-Wells Syndrome
Camptodactyly of finger, Renal amyloidosis ORPHA:575
Melas
Ragged-red muscle fibers, Myopathy, Abnormal mitochondria in muscle tissue ORPHA:550
Muckle-Wells Syndrome
Renal amyloidosis OMIM:191900
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hyperalaninemia, Ragged-red muscle fibers, Skeletal muscle atrophy, Increased intramyocellular li... OMIM:252010
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Choreoacanthocytosis
Resting tremor, Muscle fiber atrophy, Blepharospasm, Peroneal muscle atrophy, Limb dystonia, Lary... ORPHA:2388
Singleton-Merten Syndrome 1
Tendon rupture, Muscle fiber atrophy OMIM:182250
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Joint contractures involving the joints of the feet, Flexion contracture, Renal amyloidosis 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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