Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Duchenne/Becker Muscular Dystrophies - (XR) | 1.1 | | |  | * Becker muscular distrophy - BMD | | * Cardiomyopathy, Dilated, 3B - CMD3B | | * Cardiomyopathy, dilated, X-linked - XLCM | | * Duchenne muscular dystrophy - DMD |
|
| Emery-Dreifuss muscular dystrophy, X-linked , type 1 - (XR) | 1.2 | | | | * Emery-dreifuss muscular dystrophy 1 - EDMD1 |
|
| Emery-Dreifuss muscular dystrophy, X-linked , type 2 - (XR) | 1.3 | | | four and a half LIM domain 1
|
|
| | * Emery-dreifuss muscular dystrophy 6 - EDMD6 | | * Myopathy, reducing body, X-linked, childhood-onset | | * Myopathy, reducing body, X-linked, severe early-onset | | * rigid spine muscular dystrophy 1 - RSMD1 | | * Scapuloperoneal myopathy - XPMD | | * X-linked myopathy with postural muscle atrophy - XMPMA |
|
| Emery-Dreifuss muscular dystrophy, autosomal dominant - (AD) | 1.4 | | | | * Cardiomyopathy, dilated, 1A - CMD1A | | * Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 | | * Emery-Dreifuss Autosomal recessive - EDMD3 | | * Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 | | * Hutchinson-Gilford progeria syndrome - HGPS | | * Lipodystrophy, familial partial, type 2 - FPLD2 | | * Mandibuloacral dysplasia with type a lipodystrophy - MADA | | * Muscular dystrophy, limb-girdle, type 1B - LGMD1B | | * restrictive dermopathy |
|
| Emery-Dreifuss muscular dystrophy, autosomal recessive - (AR) | 1.5 | | | | * Cardiomyopathy, dilated, 1A - CMD1A | | * Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 | | * Emery-Dreifuss Autosomal recessive - EDMD3 | | * Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 | | * Hutchinson-Gilford progeria syndrome - HGPS | | * Lipodystrophy, familial partial, type 2 - FPLD2 | | * Mandibuloacral dysplasia with type a lipodystrophy - MADA | | * Muscular dystrophy, limb-girdle, type 1B - LGMD1B | | * restrictive dermopathy |
|
| Nesprin-1 related muscular dystrophy - (AD) | 1.6 | | | spectrin repeat containing, nuclear envelope 1 (nesprin 1)
|
|
| | * Dilated cardiomyopathy with nesprin-1 defect | | * Emery-dreifuss muscular dystrophy 4 - EDMD4 | | * Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 |
|
| Nesprin-2 related muscular dystrophy - (AD) | 1.7 | | | spectrin repeat containing, nuclear envelope 2 (nesprin 2)
|
|
| | * Nesprin-2 related muscular dystrophy - EDMD |
|
| LUMA related muscular dystrophy - (AD) | 1.8 | | | | * arrhythmogenic right ventricular dysplasia, familial, 5 - ARVD5 | | * luma related muscular dystrophy |
|
| Facio-scapulo-humeral muscular dystrophy - (AD) | 1.9 | | | | * Muscular dystrophy, facioscapulohumeral - FSHD | | * Muscular dystrophy, facioscapulohumeral, type 1A - FSHD1A |
|
| Muscular dystrophy with generalized lipodystrophy - (AD) | 1.10 | | | polymerase I and transcript release factor
|
|
| | * lipodystrophy, congenital generalized, type 4 - CGL4 |
|
| Limb-Girdle, Muscular dystrophy, type 1A - (AD) | 1.11 | | | | * Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A | | * Myofibrillar myopathy, myotilin related - MFM3 | | * Spheroid body myopathy |
|
| Limb-Girdle, Muscular dystrophy, type 1B - (AD) | 1.12 | | | | * Cardiomyopathy, dilated, 1A - CMD1A | | * Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 | | * Emery-Dreifuss Autosomal recessive - EDMD3 | | * Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 | | * Hutchinson-Gilford progeria syndrome - HGPS | | * Lipodystrophy, familial partial, type 2 - FPLD2 | | * Mandibuloacral dysplasia with type a lipodystrophy - MADA | | * Muscular dystrophy, limb-girdle, type 1B - LGMD1B | | * restrictive dermopathy |
|
| Limb-Girdle, Muscular dystrophy, type 1C - (AD) | 1.13 | | | | * cardiomyopathy, familial hypertrophic - CMH | | * Creatine phosphokinase, elevated serum - CPK | | * Distal myopathy with caveolin defect | | * Hyperckemia, idiopathic | | * Long QT syndrome 9 - LQT9 | | * Muscular dystrophy, limb-girdle, type IC - LGMD1C | | * Rippling muscle disease - RMD2 |
|
| Limb-Girdle, Muscular dystrophy, type 1D - (AD) | 1.14 | | | HSP-40 homologue, subfamily B, number 6
|
|
| | * Limb girdle muscular dystrophy 1D (autosomal dominant) - LGMD1D |
|
| Limb-Girdle, Muscular dystrophy, type 1E - (AD) | 1.15 | | | | * Cardiomyopathy, dilated, 1F - CMD1F | | * Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E |
|
| Limb-Girdle, Muscular dystrophy, type 1F - (AD) | 1.16 | | | | * Muscular dystrophy, Limb-Girdle, Type 1F - LGMD1F |
|
| Limb-Girdle, Muscular dystrophy, type 1G - (AD) | 1.17 | | | | * Muscular dystrophy, limb-girdle, type 1G - LGMD1G |
|
| Limb-Girdle, Muscular dystrophy, type 1H - (AD) | 1.18 | | | | * Limb-girdle, muscular dystrophy, type 1h - LGMD1H |
|
| Limb-Girdle, Muscular dystrophy, type 2A - (AR) | 1.19 | | | | * Muscular dystrophy, limb-girdle, type 2A - LGMD2A |
|
| Limb-Girdle, Muscular dystrophy, type 2B - (AR) | 1.20 | | | | * Miyoshi myopathy - MM | | * Muscular dystrophy, limb-girdle, type 2B - LGMD2B |
|
| Limb-Girdle, Muscular dystrophy, type 2C - (AR) | 1.21 | | | | * Muscular dystrophy, limb-girdle, type 2C - LGMD2C |
|
| Limb-Girdle, Muscular dystrophy, type 2D - (AR) | 1.22 | | | | * Muscular dystrophy, limb-girdle, type 2D - LGMD2D |
|
| Limb-Girdle, Muscular dystrophy, type 2E - (AR) | 1.23 | | | | * Muscular dystrophy, limb-girdle, type 2E - LGMD2E |
|
| Limb-Girdle, Muscular dystrophy, type 2F - (AR) | 1.24 | | | | * Dilated Cardiomyopathy, 1L - CMD1L | | * Muscular dystrophy, limb-girdle, type 2F - LGMD2F |
|
| Limb-Girdle, Muscular dystrophy, type 2G - (AR) | 1.25 | | | | * Congenital musuclar dystrophy with telethonin defect | | * Dilated cardiomyopathy, 1N | | * Muscular dystrophy, limb-girdle, type 2G - LGMD2G |
|
| Limb-Girdle, Muscular dystrophy, type 2H - (AR) | 1.26 | | | Tripartite motif-containing 32
|
|
| | * Muscular dystrophy, limb-girdle, type 2H - LGMD2H | | * Sarcotubular myopathy |
|
| Limb-Girdle, Muscular dystrophy, type 2I - (AR) | 1.27 | | | | * Muscle-eye-brain disease - MEB | | * Muscular dystrophy, congenital, 1C - MDC1C | | * Muscular dystrophy, limb-girdle, type 2I - LGMD2I | | * Walker-Warburg syndrome - WWS3 |
|
| Limb-Girdle, Muscular dystrophy, type 2J - (AR) | 1.28 | | | | * Autosomal dominant myopathy with proximal muscle weakness and early respiratory | | * Cardiomyopathy, dilated, 1G - CMD1G | | * Cardiomyopathy, familial hypertrophic, 9 - CMH9 | | * Congenital myopathy with fatal cardiomyopathy | | * Hereditry myopathy with early respiratory failure - HMERF | | * Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J | | * Tibial muscular dystrophy, tardive - TMD |
|
| Limb-Girdle, Muscular dystrophy, type 2K - (AR) | 1.29 | | | Protein-O-mannosyltransferase 1
|
|
| | * Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K | | * Walker-Warburg syndrome - WWS |
|
| Limb-Girdle, Muscular dystrophy, type 2L - (AR) | 1.30 | | | | * Early onset calf distal myopathy | | * Muscular dystrophy, limb-girdle, type 2L - LGMD2L |
|
| Limb-Girdle, Muscular dystrophy, type 2M - (AR) | 1.31 | | | | * fukuyama congenital muscular dystrophy - FCMD | | * Limb-girdle, muscular dystrophy, type 2m - LGMD2M | | * Walker-warburg syndrome - WWS |
|
| Limb-Girdle, Muscular dystrophy, type 2N - (AR) | 1.32 | | | protein-O-mannosyltransferase 2
|
|
| | * Limb-girdle, muscular dystrophy, type 2n - LGMD2N | | * Muscle-eye-brain disease - MEB | | * Walker-Warburg syndrome - WWS2 |
|
| Limb-Girdle, Muscular dystrophy, type 2O - (AR) | 1.33 | | | O-linked mannose beta1,2-N-acetylglucosaminyltransferase
|
|
| | * Limb-girdle, muscular dystrophy, type 2o - LGMD2O | | * Muscle-eye-brain disease - MEB | | * Walker-Warburg syndrome - WWS |
|
| Limb-Girdle, Muscular dystrophy, type 2Q - (AR) | 1.34 | | | plectin 1, intermediate filament binding protein 500kDa
|
|
| | * Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS | | * Limb-girdle, muscular dystrophy, type 2q - LGMD2Q | | * Myasthenic syndrome, with plectin defect |
|
| Recessive limb-girdle muscular dystrophy with primary alphadystroglycan defect - (AR) | 1.35 | | | Dystroglycan1 (dystrophin-associated glycoprotein 1)
|
|
| | * Muscular dystrophy-dystroglycanopathy (limb-girdle) - MDDGC7 |
|
