Disease phenotype
OMIM
Gene symbol (chromosome)
protein
protein
? - (17q11.2-q24)
? - (7q21-q22)
? - (3q13.1)
? - (5p)
? - (2q14)
? - (19p13)
? - (7q32)
? - (4q21)
? - (17q13)
? - (Xq28)
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Machado-Joseph disease (13.3) | ||
| Malignant hyperthermia susceptibility 1 (3.18, 8.1, 3.19, 3.20, 3.30, 3.17, 3.12) | ||
| Malignant hyperthermia susceptibility 2 (8.2) | ? - (17q11.2-q24) | |
| Malignant hyperthermia susceptibility 3 (8.3) | ? - (7q21-q22) | |
| Malignant hyperthermia susceptibility 4 (8.4) | ? - (3q13.1) | |
| Malignant hyperthermia susceptibility 5 (7.8, 8.5) | ||
| Malignant hyperthermia susceptibility 6 (8.6) | ? - (5p) | |
| Mandibuloacral dysplasia with type a lipodystrophy (1.4, 1.12, 1.5, 10.26, 14.51) | ||
| Marinesco-Sjogren syndrome (13.50) | ||
| MASA syndrome (15.43) | ||
| McArdle disease (9.4) | ||
| Migraine familial hemiplegic 1, with progressive cerebellar ataxia (7.9, 13.6, 13.35, 7.10, 13.30) | ||
| minicore myopathy with external ophthalmoplegia (3.18, 8.1, 3.19, 3.20, 3.30, 3.17, 3.12) | ||
| Mitochondrial dna depletion syndrome 8A (16.23, 16.20) | ||
| Mitochondrial dna depletion syndrome, myopathic form (16.21, 13.28) | ||
| Mitochondrial dna depletion syndrome, myopathic form (16.22) | ||
| Miyoshi myopathy (4.1, 1.20) | ||
| Motor neuropathy, distal, with vocal cord paralysis (12.16) | ? - (2q14) | |
| Multiminicore disease, classical form (2.14, 5.3, 3.10, 3.21) | ||
| Multiple acyl-CoA dehydrogenase deficiency (9.18) | ||
| Multiple acyl-coa dehydrogenase deficiency (9.20, 9.24) | ||
| Muscle hypertrophy (5.15) | ||
| Muscle-eye-brain disease (2.8, 2.13, 1.32) | ||
| Muscle-eye-brain disease (2.11, 2.10, 1.33) | ||
| Muscle-eye-brain disease (2.3, 1.27, 2.9, 2.12) | ||
| Muscular dystrophy, autosomal dominant, with rimmed vacuoles (4.8) | ? - (19p13) | |
| Muscular dystrophy, congenital merosin-deficient (2.1) | ||
| Muscular dystrophy, congenital, 1C (2.3, 1.27, 2.9, 2.12) | ||
| Muscular dystrophy, facioscapulohumeral (1.9) | ||
| Muscular dystrophy, facioscapulohumeral, type 1A (1.9) | ||
| Muscular dystrophy, Limb-Girdle, type 1A (1.11, 5.6, 5.7, 4.9) | ||
| Muscular dystrophy, limb-girdle, type 1B (1.4, 1.12, 1.5, 10.26, 14.51) | ||
| Muscular dystrophy, Limb-Girdle, Type 1F (1.16) | ? - (7q32) | |
| Muscular dystrophy, limb-girdle, type 1G (1.17) | ? - (4q21) | |
| Muscular dystrophy, limb-girdle, type 2A (1.19) | ||
| Muscular dystrophy, limb-girdle, type 2B (4.1, 1.20) | ||
| Muscular dystrophy, limb-girdle, type 2C (1.21) | ||
| Muscular dystrophy, limb-girdle, type 2D (1.22) | ||
| Muscular dystrophy, limb-girdle, type 2E (1.23) | ||
| Muscular dystrophy, limb-girdle, type 2F (1.24, 10.38) | ||
| Muscular dystrophy, limb-girdle, type 2G (1.25, 10.40, 2.26) | ||
| Muscular dystrophy, limb-girdle, type 2H (1.26, 3.34) | ||
| Muscular dystrophy, limb-girdle, type 2I (2.3, 1.27, 2.9, 2.12) | ||
| Muscular dystrophy, Limb-Girdle, type 2K (2.7, 1.29) | ||
| Muscular dystrophy, limb-girdle, type 2L (1.30, 4.13) | ||
| Muscular dystrophy, limb-girdle, type IC (1.13, 6.6, 5.17, 6.7, 4.11, 10.95, 10.16) | ||
| Muscular dystrophy, rigid spine, 1 (2.14, 5.3, 3.10, 3.21) | ||
| Muscular dystrophy-dystroglycanopathy (limb-girdle) (1.35) | ||
| Myastenia, Limb-Girdle, With tubular aggregates (11.16) | ||
| Myasthenia gravis, autosomal recessive (11.12) | ||
| Myasthenia gravis, familial infantile (11.12) | ||
| Myasthenia gravis, familial infantile, 2 (11.12) | ||
| Myasthenia, familial infantil, 1 (11.19) | ? - (17q13) | |
| Myasthenia, limb-girdle, familial (11.17) | ||
| Myasthenic syndrome, congenital (11.11) | ||
| Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien (11.18) | ||
| Myasthenic syndrome, congenital, Ie, included (11.2, 11.8) | ||
| Myasthenic syndrome, fast-channel congenital (11.1, 11.5) | ||
| Myasthenic syndrome, fast-channel congenital (11.4, 11.7, 11.10) | ||
| Myasthenic syndrome, fast-channel congenital (11.3, 11.6, 11.9) | ||
| Myasthenic syndrome, slow-channel congenital (11.2, 11.8) | ||
| Myasthenic syndrome, slow-channel congenital (11.3, 11.6, 11.9) | ||
| Myasthenic syndrome, slow-channel congenital (11.1, 11.5) | ||
| Myasthenic syndrome, slow-channel congenital (11.4, 11.7, 11.10) | ||
| Myasthenic syndrome, with plectin defect (5.14, 1.34, 11.22) | ||
| Myoclonus-dystonia syndrome (16.2) | ||
| myofibrillar myopathy with bag3 defect (5.9) | ||
| myofibrillar myopathy ZASP-related (5.4, 10.29, 4.12) | ||
| Myofibrillar myopathy, alpha-B crystallin related (5.1, 10.51) | ||
| Myofibrillar myopathy, desmin-related myopathy (5.2, 10.35) | ||
| Myofibrillar myopathy, myotilin related (1.11, 5.6, 5.7, 4.9) | ||
| Myoglobinuria/hemolysis due to PGK deficiency (9.11) | ||
| Myopathy due to CPT II deficiency (9.15) | ||
| Myopathy due to phosphoglycerate mutase deficiency (9.12) | ||
| myopathy with deficiency of succinate dehydrogenase and aconitase (5.23) | ||
| myopathy with exercise intolerance, swedish type (5.23) | ||
| Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles (3.26, 3.25) | ||
| myopathy with lactic acidosis, hereditary (5.23) | ||
| myopathy, congenital, with fiber-type disproportion (3.9, 3.3, 3.29) | ||
| myopathy, congenital, with fiber-type disproportion (2.14, 5.3, 3.10, 3.21) | ||
| myopathy, congenital, with fiber-type disproportion (4.4, 10.1, 3.23, 10.45, 3.24, 3.13) | ||
| myopathy, congenital, with fiber-type disproportion (3.18, 8.1, 3.19, 3.20, 3.30, 3.17, 3.12) | ||
| Myopathy, distal 1 (4.4, 10.1, 3.23, 10.45, 3.24, 3.13) | ||
| Myopathy, distal 2 (4.5) | ||
| Myopathy, distal, 4 (5.8, 4.16) | ||
| Myopathy, myofibrillar, 2 (5.1, 10.51) | ||
| Myopathy, myofibrillar, filamin C-related (5.8, 4.16) | ||
| Myopathy, reducing body, X-linked, childhood-onset (1.3, 5.18, 5.19, 2.15, 5.20) | ||
| Myopathy, reducing body, X-linked, severe early-onset (1.3, 5.18, 5.19, 2.15, 5.20) | ||
| Myopathy, X-linked, with excessive autophagy (5.11) | ? - (Xq28) | |
| myosclerosis, autosomal recessive (2.22, 2.17, 2.20, 2.23) | ||
| Myosin storage myopathy (4.4, 10.1, 3.23, 10.45, 3.24, 3.13) | ||
| Myosin, heavy chain, perinatal (16.15) | ||
| Myotonia congenita, autosomal dominant, Thomsen disease (7.1, 6.3, 6.4, 7.2) | ||
| Myotonia congenita, autosomal recessive, Becker disease (7.1, 6.3, 6.4, 7.2) | ||
| Myotonia potassium-aggravatd (7.3, 7.5, 7.4, 7.6, 11.20) | ||
| Myotonia recessive (7.1, 6.3, 6.4, 7.2) | ||
| Myotonic dystrophy 1 (6.1) | ||
| Myotonic dystrophy, type 2 (6.2) | ||
| Myotubular myopathy, X-linked (3.14) | ||
| Myxomatous valvular dystrophy, X-ninked (10.71) |