Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Muscular dystrophy, Central core regions in muscle fibers |
OMIM:159050 |
Tibial Muscular Dystrophy, Tardive |
|
Muscular dystrophy, Rimmed vacuoles, EMG: myopathic abnormalities |
OMIM:600334 |
Tubular Aggregate Myopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, EMG: ... |
ORPHA:2593 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Increased variability in muscle fiber diameter, Distal lower limb amyotrophy, Calf muscle hypertr... |
OMIM:601954 |
Muscular Dystrophy, Mabry Type |
|
Late-onset muscular dystrophy |
OMIM:310000 |
Vacuolar Neuromyopathy |
|
Muscle fiber splitting, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Shoulder ... |
OMIM:601846 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Centrally nucleated skeletal muscle fibers, Autophagic vacuoles, Muscular dystrophy, Shoulder gir... |
OMIM:608423 |
Spinal Muscular Atrophy, Type Iv |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Spina... |
OMIM:271150 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscl... |
OMIM:615424 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, C... |
OMIM:613530 |
Miyoshi Muscular Dystrophy 3 |
|
Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Distal lower limb muscle ... |
OMIM:613319 |
Facioscapulohumeral Muscular Dystrophy 2, Digenic |
|
Pelvic girdle muscle weakness, Scapulohumeral muscular dystrophy, Foot dorsiflexor weakness, Scap... |
OMIM:158901 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles |
OMIM:615426 |
Muscular Dystrophy, Congenital, With Rapid Progression |
|
Congenital muscular dystrophy |
OMIM:254100 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:619733 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Limb-girdle muscle weakness, Muscular dystrophy, Calf muscle pseudohypertrophy, Shoulder girdle m... |
OMIM:604286 |
Miyoshi Muscular Dystrophy 1 |
|
Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Lower limb muscle weakness, M... |
OMIM:254130 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Centrally n... |
OMIM:301075 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:254110 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Increased variability in muscle fiber diameter, Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Muscular Dystrophy, Progressive Pectorodorsal |
|
Muscular dystrophy, Scapular winging, Shoulder girdle muscle weakness |
OMIM:310095 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:612999 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy... |
OMIM:608807 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Centrally nucleated skele... |
OMIM:617760 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... |
OMIM:253601 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Quadriceps muscle atrophy, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weak... |
OMIM:611307 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Increased variability in muscle fiber diameter, Z-band streaming, Internally nucleated skeletal m... |
OMIM:617158 |
Polyglucosan Body Myopathy 2 |
|
Limb-girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Muscle fibe... |
OMIM:616199 |
Myopathy, Distal, Tateyama Type |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:614321 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Increased variability in muscle fiber diameter, Z-band streaming, Autophagic vacuoles, Internally... |
OMIM:618655 |
Nonaka Myopathy |
|
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal lower limb ... |
OMIM:605820 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Centr... |
OMIM:117000 |
Myopathy, Distal, 5 |
|
Muscle fiber splitting, Weakness of facial musculature, Myopathy, Distal lower limb muscle weakne... |
OMIM:617030 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Congenital ... |
OMIM:613204 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12 |
|
Muscular dystrophy, Limb-girdle muscle weakness |
OMIM:616094 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Inflammatory myopathy, Skeletal muscl... |
ORPHA:611 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal lower limb amyotrophy, Proximal muscle weakness in low... |
OMIM:158600 |
Tibial Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea... |
ORPHA:609 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Fatty replacement of skel... |
OMIM:618129 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f... |
ORPHA:34515 |
Myopathy, Scapulohumeroperoneal |
|
Increased variability in muscle fiber diameter, Wrist drop, Centrally nucleated skeletal muscle f... |
OMIM:616852 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy |
OMIM:254000 |
Myopathy, Centronuclear, 1 |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Proximal upper limb amyotrophy, ... |
OMIM:160150 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Ankle f... |
OMIM:613818 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal lower limb amyotrophy, Shoulder girdle muscle weakness, Flexion limitation of toes, Pelv... |
OMIM:609115 |
Myofibrillar Myopathy 11 |
|
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... |
OMIM:619178 |
Myopathy, Distal, 3 |
|
Joint contracture of the hand, Muscular dystrophy, EMG: myopathic abnormalities, Distal amyotroph... |
OMIM:610099 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Calf muscle... |
OMIM:618848 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... |
OMIM:603511 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
|
Muscular dystrophy, Proximal amyotrophy, Scapular winging, Calf muscle hypertrophy |
OMIM:601287 |
Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Limb-girdle muscle weak... |
OMIM:616228 |
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy |
|
Muscular dystrophy |
OMIM:253590 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Wrist flexion contracture, Congenital finger flexion contractures, Flexion contracture, Lower lim... |
ORPHA:267 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance |
OMIM:614807 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculature, Foot dorsiflexor weakn... |
OMIM:181400 |
Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Increased variability in muscle fiber diameter, Interosseus muscle atrop... |
OMIM:617072 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Muscular dystrophy, Skeletal muscle hypertrophy |
OMIM:613158 |
Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy |
OMIM:158800 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
Muscular dystrophy, Proximal amyotrophy |
OMIM:612998 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Z-band streaming, Fatty replacement of skeletal muscle, Centrally nucleated skeletal muscle fiber... |
OMIM:618823 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Generalized limb mu... |
OMIM:608358 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Prox... |
OMIM:614302 |
Muscular Dystrophy, Congenital, 1B |
|
Congenital muscular dystrophy, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... |
OMIM:604801 |
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4 |
|
Muscular dystrophy |
OMIM:613152 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Elb... |
OMIM:619566 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Muscle eosinophilia, Myositi... |
OMIM:253600 |
Dpm3-Cdg |
|
Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Calf muscle hypertrophy |
ORPHA:263494 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Muscular dystrophy, Skel... |
OMIM:613157 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy |
OMIM:613723 |
Gne Myopathy |
|
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... |
ORPHA:602 |
Myopathy, Myofibrillar, 2 |
|
Muscle fiber splitting, Limb-girdle muscle weakness, Lower limb muscle weakness, Muscular dystrop... |
OMIM:608810 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Myositis, Myopathy, Skeletal mu... |
OMIM:615422 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Peroneal muscle atrophy, Limb-girdle muscle weakness, Distal lower limb amyotrophy, Muscular dyst... |
OMIM:181350 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture |
OMIM:609308 |
Creatine Phosphokinase, Elevated Serum |
|
Muscular dystrophy, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Inflammatory ... |
OMIM:123320 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Macroglossia, Skeletal muscle atr... |
OMIM:616827 |
Muscular Dystrophy, Becker Type |
|
Muscular dystrophy, Calf muscle pseudohypertrophy |
OMIM:300376 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Muscular dystrophy |
OMIM:204730 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Centrally nucleated skeletal muscle fibers |
OMIM:617066 |
Muscular Dystrophy, Cardiac Type |
|
Muscular dystrophy |
OMIM:309930 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... |
ORPHA:34516 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
OMIM:616812 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan |
OMIM:615352 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Calf ... |
OMIM:611705 |
Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies |
OMIM:609524 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Congenital muscular dystrophy, Myopathy, Facial palsy |
OMIM:602541 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Muscular dystrophy, Scapular winging, Achilles tendon contracture, Calf muscle pseudohypertrophy |
ORPHA:62 |
Oculopharyngodistal Myopathy 2 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, EMG: myopat... |
OMIM:618940 |
Multiminicore Myopathy |
|
Abnormal muscle fiber morphology, Congenital muscular dystrophy, Myopathy, Minicore myopathy, Pro... |
ORPHA:598 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Rhabd... |
OMIM:620138 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu... |
OMIM:255320 |
Distal Myopathy With Anterior Tibial Onset |
|
Tibialis muscle weakness, Limb-girdle muscle weakness, Weakness of the intrinsic hand muscles, Fi... |
ORPHA:178400 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Muscular dystrophy, Elbow flexion contracture, Joint contracture, Generalized amyotrophy |
OMIM:616516 |
Hereditary Myopathy With Early Respiratory Failure |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:178464 |
Congenital Myopathy 3 With Rigid Spine |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:602771 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Muscular dystrophy, Congenital muscular dystrophy |
OMIM:613151 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Camptodactyly of finger, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle a... |
ORPHA:2926 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Muscle fiber atrophy, Qua... |
ORPHA:206549 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Myopathy, Ragged-red muscle fibers, Rimmed vacuoles |
ORPHA:270 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro... |
ORPHA:603 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Fatty replacement of skeletal muscle, Congenital muscular dystrophy, Achilles tendon contracture,... |
ORPHA:370980 |
Muscular Dystrophy, Congenital, Lmna-Related |
|
Hip contracture, Generalized amyotrophy, Congenital muscular dystrophy, Achilles tendon contractu... |
OMIM:613205 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Calf muscle hypertrophy, Muscular dystrophy, Elbow flexion contrac... |
OMIM:608840 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Flexion contractur... |
OMIM:616470 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Muscular dystrophy, Flexion contracture, Skeletal muscle hypertrophy |
OMIM:611588 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:437572 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Congenital muscular dystrophy, Flexion contracture |
OMIM:607855 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Muscular dystrophy |
OMIM:613869 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan |
OMIM:615350 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased intramyocellular lipid droplets, Weakness of facial musculature, Distal lower limb musc... |
ORPHA:457050 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:618484 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Calf muscle hypertrophy, Scapulohumeral muscular dystrophy, Shoulder girdle muscle atrophy, Skele... |
OMIM:158900 |
Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Ragged-red muscle fibers, Pro... |
OMIM:500002 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Increased variability in muscle fiber diameter, Flexion contracture, Abnormal skeletal muscle mor... |
ORPHA:98905 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Muscular dystrophy |
OMIM:614830 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Muscular dystrophy, Muscle fiber splitting, Increased variability in muscle fiber diameter, Mothe... |
OMIM:226670 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... |
ORPHA:266 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Congenital muscular dystrophy, ... |
OMIM:613155 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Limb-girdle muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy,... |
OMIM:255160 |
X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Type 1 fibers relatively smaller than type 2 fibers, Centrally nu... |
ORPHA:596 |
Zebra Body Myopathy |
|
Muscle fiber splitting, Autophagic vacuoles, Torticollis, EMG: myopathic abnormalities, Muscle fi... |
ORPHA:97240 |
Bethlem Myopathy |
|
Camptodactyly of finger, Wrist flexion contracture, Limb-girdle muscle weakness, Flexion contract... |
ORPHA:610 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Lower limb muscle weakness, Achilles tendon contracture, Distal upp... |
OMIM:620068 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Multi... |
ORPHA:486815 |
Myopathy, Myofibrillar, 6 |
|
Knee flexion contracture, Myofibrillar myopathy, Generalized amyotrophy, Lower limb muscle weakne... |
OMIM:612954 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Muscular dystrophy, Progressive distal muscular atrophy, Distal lower limb muscle weakness |
ORPHA:459033 |
Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... |
ORPHA:401768 |
Myopathy, Centronuclear, 2 |
|
Flexion contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, EMG: myo... |
OMIM:255200 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Lower limb muscle weakness, Calf muscle hypertrophy, Macroglossia, Limb-girdle muscular dystrophy... |
OMIM:616052 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
EMG: myopathic abnormalities, Increased intramuscular fat, Ragged-red muscle fibers, Intrinsic ha... |
ORPHA:276435 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Joint contracture, Generalized limb ... |
OMIM:615351 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Flexion contracture, Muscular dystrophy, Congenital muscular dystrophy, Left ventricular hypertro... |
OMIM:613156 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,... |
ORPHA:399058 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Facial palsy, Ragged-red muscle fibers, EMG: myopathic abnormalities |
OMIM:609283 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Increased variability in muscle fiber diameter, Hip contracture, Lower limb muscle weakness, Type... |
OMIM:619042 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Flexion contracture, Muscular dystrophy, Myopathy, Hypoglycosylation of ... |
ORPHA:272 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Centrally nucleated ... |
OMIM:255310 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Calf muscle hypertrophy, Congenital muscular dystrophy, Achilles tendon contracture, Elbow contra... |
OMIM:606612 |
Myopathy, Myofibrillar, 8 |
|
Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Achilles tendon contracture, ... |
OMIM:617258 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Congenital muscular dystrophy |
ORPHA:1875 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Weakness of facial musculature, Scapular winging, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:617069 |
Myopathy, Centronuclear, 5 |
|
Weakness of facial musculature, Hip contracture, Centrally nucleated skeletal muscle fibers |
OMIM:615959 |
Amyotrophic Lateral Sclerosis 21 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Shoul... |
OMIM:606070 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
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Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumu... |
OMIM:619518 |
Lipodystrophy, Familial Partial, Type 6 |
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Muscular dystrophy, Myopathy, Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:615980 |
Nemaline Myopathy 5 |
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Z-band streaming, Hip contracture, Shoulder flexion contracture, Type 1 muscle fiber predominance... |
OMIM:605355 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
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Knee flexion contracture, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
OMIM:616313 |
King-Denborough Syndrome |
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Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Type 1 muscle fiber predominanc... |
OMIM:619542 |
Autosomal Recessive Centronuclear Myopathy |
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Hip contracture, Centrally nucleated skeletal muscle fibers, Generalized amyotrophy, Left ventric... |
ORPHA:169186 |
Myopathy, Distal, 1 |
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Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... |
OMIM:160500 |
Autosomal Dominant Centronuclear Myopathy |
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Centrally nucleated skeletal muscle fibers, Abnormality of the foot musculature, Calf muscle hype... |
ORPHA:169189 |
Distal Myopathy, Tateyama Type |
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Increased variability in muscle fiber diameter, Weakness of the intrinsic hand muscles, EMG: myop... |
ORPHA:488650 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
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Muscle fiber splitting, Increased variability in muscle fiber diameter, Upper limb amyotrophy, Lo... |
OMIM:616924 |
Congenital Myopathy 8 |
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Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... |
OMIM:618654 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
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Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Myopathy |
ORPHA:1878 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
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Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor... |
OMIM:300696 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
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Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Myopathy, Rimmed ... |
OMIM:612937 |
Merrf |
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Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Finnish Upper Limb-Onset Distal Myopathy |
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Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h... |
ORPHA:399086 |
Classic Multiminicore Myopathy |
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Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Congenital muscular dy... |
ORPHA:324604 |
Marinesco-Sjogren Syndrome |
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Flexion contracture, Centrally nucleated skeletal muscle fibers, Myopathy, Skeletal muscle atroph... |
OMIM:248800 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
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Muscle fiber splitting, Increased variability in muscle fiber diameter, Calf muscle hypertrophy, ... |
OMIM:603689 |
Congenital Myopathy 14 |
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Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Hi... |
OMIM:618414 |
Sandhoff Disease, Adult Form |
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Proximal muscle weakness in lower limbs, Upper limb muscle weakness, Muscle fiber atrophy |
ORPHA:309169 |
Myopathy, Tubular Aggregate, 1 |
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Increased variability in muscle fiber diameter, Flexion contracture, Weakness of the intrinsic ha... |
OMIM:160565 |
Glycogen Storage Disease Ixd |
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Lower limb muscle weakness, Glycogen accumulation in muscle fiber lysosomes, Muscle fiber necrosi... |
OMIM:300559 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
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Muscle fiber intracytoplasmic reducing inclusion bodies, Increased variability in muscle fiber di... |
OMIM:300718 |
Ullrich Congenital Muscular Dystrophy 1 |
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Increased variability in muscle fiber diameter, Flexion contracture, Generalized amyotrophy, Cong... |
OMIM:254090 |
Nemaline Myopathy 2 |
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Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Fatt... |
OMIM:256030 |
Myopathy, X-Linked, With Excessive Autophagy |
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Flexion contracture, Proximal lower limb amyotrophy, Muscle fiber necrosis, Myopathy, Skeletal mu... |
OMIM:310440 |
Oculopharyngodistal Myopathy 3 |
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Increased variability in muscle fiber diameter, Generalized amyotrophy, Internally nucleated skel... |
OMIM:619473 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
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Muscular dystrophy, Myopathy, Limb-girdle muscular dystrophy, Muscle fiber atrophy |
ORPHA:369840 |
Myoglobinuria, Recurrent |
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Ragged-red muscle fibers |
OMIM:550500 |
Congenital Myopathy 6 With Ophthalmoplegia |
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Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Muscle fiber in... |
OMIM:605637 |
Myopathy, Myofibrillar, 4 |
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Muscle fiber splitting, Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles |
OMIM:609452 |
Laing Early-Onset Distal Myopathy |
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Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti... |
ORPHA:59135 |
Glycerol Kinase Deficiency |
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Muscular dystrophy, Myopathy |
OMIM:307030 |
Oculopharyngodistal Myopathy 4 |
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Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Autophagic ... |
OMIM:619790 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
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Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
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Congenital muscular dystrophy |
ORPHA:324416 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
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Triceps weakness, Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Centrally nucleated s... |
OMIM:619574 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
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Generalized amyotrophy, Shoulder girdle muscle weakness, Pelvic girdle amyotrophy, Pelvic girdle ... |
OMIM:167320 |
Lethal Congenital Contracture Syndrome 5 |
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Flexion contracture, Centrally nucleated skeletal muscle fibers, Congenital contracture |
OMIM:615368 |
Mitochondrial Myopathy, Infantile, Transient |
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Macroglossia, Increased muscle lipid content, Increased muscle glycogen content, Hypertrophied mu... |
OMIM:500009 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Muscular dystrophy |
OMIM:615181 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
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Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:617070 |
Congenital Disorder Of Glycosylation, Type Ie |
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Knee flexion contracture, Camptodactyly, Ankle flexion contracture, Muscular dystrophy |
OMIM:608799 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Muscular dystrophy, Left ventricular hypertrophy |
OMIM:613153 |
Muscular Dystrophy, Duchenne Type |
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Knee flexion contracture, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Achil... |
OMIM:310200 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
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Calf muscle hypertrophy, Achilles tendon contracture, Congenital muscular dystrophy, Macroglossia... |
OMIM:607155 |
Amish Nemaline Myopathy |
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Hip contracture, Type 1 muscle fiber predominance, EMG: myopathic abnormalities, Shoulder flexion... |
ORPHA:98902 |
Marinesco-Sjögren Syndrome |
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Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Skeletal mus... |
ORPHA:559 |
Congenital Muscular Dystrophy, Ullrich Type |
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Knee flexion contracture, Increased variability in muscle fiber diameter, Flexion contracture, Ge... |
ORPHA:75840 |
Central Core Disease |
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Multiple joint contractures, Central core regions in muscle fibers, Type 1 muscle fiber predomina... |
ORPHA:597 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... |
ORPHA:353 |
Atrial Standstill |
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Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy, Left ventricular noncompaction |
ORPHA:1344 |
Myotubular Myopathy With Abnormal Genital Development |
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Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Gener... |
OMIM:607459 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
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Knee flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Type 1 muscle fiber p... |
ORPHA:353327 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:613327 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Congenital muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Macroglossia, Calf muscle... |
ORPHA:370959 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
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Knee flexion contracture, Hip contracture, Spinal muscular atrophy, Elbow flexion contracture, Ab... |
ORPHA:1145 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
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Macroglossia, Myopathy, Increased muscle lipid content, Increased muscle glycogen content, Ragged... |
ORPHA:254864 |
Dpm1-Cdg |
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Knee flexion contracture, Camptodactyly, Muscular dystrophy |
ORPHA:79322 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Muscular dystrophy, Flexion contracture |
OMIM:615249 |
Kearns-Sayre Syndrome |
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Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Flexion contracture, Muscle fiber atrophy, Muscular dystrophy, Congenital muscular dystrophy, Mac... |
ORPHA:258 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
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Muscular dystrophy, Increased variability in muscle fiber diameter |
OMIM:616538 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Increased variability in muscle fiber diameter, Muscular dystrophy, Macroglossia, Skeletal muscle... |
OMIM:613150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
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Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture |
OMIM:613154 |
Adrenal Hypoplasia, Congenital |
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Muscular dystrophy |
OMIM:300200 |
Scapuloperoneal Spinal Muscular Atrophy |
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Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular mu... |
OMIM:181405 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
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Decreased muscle mass, Skeletal myopathy, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, ... |
ORPHA:57 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture, Proximal lowe... |
ORPHA:98855 |
Walker-Warburg Syndrome |
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Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle atrophy |
ORPHA:899 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
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Fatty replacement of skeletal muscle, Weakness of the intrinsic hand muscles, EMG: myopathic abno... |
ORPHA:329478 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
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Weakness of facial musculature, Ragged-red muscle fibers, Rhabdomyolysis |
OMIM:618416 |
Cap Myopathy |
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Increased variability in muscle fiber diameter, Lower limb muscle weakness, Generalized amyotroph... |
ORPHA:171881 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Muscular dystrophy |
ORPHA:88618 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture, Proximal lowe... |
ORPHA:98863 |
Combined Oxidative Phosphorylation Deficiency 49 |
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Ragged-red muscle fibers |
OMIM:619024 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture, Proximal lowe... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
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Absent muscle fiber emerin, Elbow flexion contracture, Achilles tendon contracture, Proximal lowe... |
ORPHA:261 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
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Muscular dystrophy |
ORPHA:300751 |
Immune-Mediated Necrotizing Myopathy |
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Muscle fiber necrosis, Myositis, EMG: myopathic abnormalities, Myopathy, Skeletal muscle atrophy,... |
ORPHA:206569 |
Neu-Laxova Syndrome |
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Flexion contracture, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculature, S... |
ORPHA:2671 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
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Abnormal mitochondria in muscle tissue, Ragged-red muscle fibers |
ORPHA:663 |
Hypokalemic Periodic Paralysis |
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Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets |
ORPHA:681 |
Diaphragmatic Hernia 2 |
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Congenital diaphragmatic hernia, Agenesis of the diaphragm |
OMIM:222400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Congenital muscular dystrophy, Flexion contracture, Skeletal muscle atrophy, Calf muscle hypertrophy |
OMIM:253800 |
Vocal Cord And Pharyngeal Distal Myopathy |
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Abnormality of the calf musculature, Shoulder girdle muscle weakness, Distal upper limb amyotroph... |
ORPHA:600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Muscular dystrophy |
OMIM:614643 |
Greig Cephalopolysyndactyly Syndrome |
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Abnormal muscle fiber morphology, Camptodactyly of toe, Joint contracture of the hand |
OMIM:175700 |
Marden-Walker Syndrome |
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Camptodactyly of finger, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur... |
ORPHA:2461 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Muscular dystrophy, Flexion contracture |
ORPHA:158684 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
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Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber atrophy, Genera... |
OMIM:616866 |
Mosaic Variegated Aneuploidy Syndrome |
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Muscular dystrophy, Rhabdomyosarcoma |
ORPHA:1052 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
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Increased muscle lipid content, Rhabdomyolysis, Muscle fiber atrophy |
ORPHA:228302 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Abnormal muscle fiber morphology, Skeletal muscle atrophy, Facial palsy |
ORPHA:3068 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Congenital muscular dystrophy, Congenital contracture |
OMIM:236670 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Muscular dystrophy |
OMIM:615287 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Muscular dystrophy |
OMIM:253280 |
Neutral Lipid Storage Myopathy |
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Fatty replacement of skeletal muscle, Shoulder girdle muscle weakness, Increased intramyocellular... |
ORPHA:98908 |
Polymyositis |
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Abnormal muscle fiber morphology |
ORPHA:732 |
Thyrotoxic Periodic Paralysis |
|
Rhabdomyolysis, Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Lowe... |
ORPHA:79102 |