Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
Distal recessive myopathy (Miyoshi myopathy) - (AR) | 4.1 | | |  | * Miyoshi myopathy - MM |  | * Muscular dystrophy, limb-girdle, type 2B - LGMD2B |
|
Tibial muscular dystrophy (Udd myopathy) - (AD) | 4.2 | | |  | * Hereditary myopathy with early respiratory failure - HMERF |  | * Cardiomyopathy, familial hypertrophic, 9 - CMH9 | | * Congenital myopathy with fatal cardiomyopathy |  | * Cardiomyopathy, dilated, 1G - CMD1G | | * Centronuclear myopathy related to TTN |  | * Autosomal dominant myopathy with proximal muscle weakness and early respiratory |  | * Tibial muscular dystrophy, tardive - TMD |  | * Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J |
|
Distal myopathy with rimmed vacuoles (Nonaka) and Hereditary inclusion body myopathy - (AR) | 4.3 | | | UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase
|
|
|  | * Nonaka myopathy - NM |  | * Inclusion body myopathy, autosomal recessive - IBM2 |
|
Distal myopathy (Laing) - (AD) | 4.4 | | | Myosin, heavy polypeptide 7, cardiac muscle, beta
|
|
|  | * Cardiomyopathy, dilated, 1S - CMD1S |  | * myopathy, congenital, with fiber-type disproportion - CFTD |  | * Myopathy, distal 1 - MPD1 |  | * cardiomyopathy, familial hypertrophic, 1, included - CMH1 |  | * Left ventricular noncompaction 5 - LVNC5 |  | * Myosin storage myopathy |
|
Vocal cord and pharyngeal distal myopathy - (AD) | 4.5 | | |  | * Vocal cord and pharyngeal distal myopathy - VCPDM |  | * Familial amyotrophic lateral sclerosis - ALS21 |
|
Adult onset distal myopathy - (AD) | 4.6 | | |  | * Adult onset distal myopathy - MPD3 |
|
Welander distal myopathy - (AD) | 4.7 | | | Cytotoxic granuleassociated RNA binding protein
|
|
|  | * Welander distal myopathy - WDM |
|
Distal myopathy with pes cavus and areflexia (Vacuolar neuromyopathy) - (AD) | 4.8 | | |  | * Muscular dystrophy, autosomal dominant, with rimmed vacuoles - MDRV |
|
Distal myopathy with myotilin defect - (AD) | 4.9 | | |  | * Myofibrillar myopathy, myotilin related - MFM3 |  | * Spheroid body myopathy |  | * Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A |
|
Distal myopathy with nebulin defect - (AR) | 4.10 | | |  | * Nemaline myopathy 2, autosomal recessive - NEM2 |
|
Distal myopathy with caveolin defect - (AD) | 4.11 | | | | * Distal myopathy related to caveolin |  | * cardiomyopathy, familial hypertrophic - CMH |  | * Creatine phosphokinase, elevated serum - CPK |  | * Rippling muscle disease - RMD2 | | * Long QT syndrome 9 - LQT9 |  | * Muscular dystrophy, limb-girdle, type IC - LGMD1C |  | * Hyperckemia, idiopathic |
|
Late onset distal myopathy (Markesbery-Griggs) - (AD) | 4.12 | | |  | * myofibrillar myopathy ZASP-related - MFM4 |  | * cardiomyopathy, dilated 1C - CMD1C |  | * Hypertrophic cardiomyopathy related to ZASP - CMH24 |  | * Left ventricular noncompaction 3 - LVNC3 |
|
Early onset calf distal myopathy - (AR) | 4.13 | | | | * Early onset calf distal myopathy |  | * Muscular dystrophy, limb-girdle, type 2L - LGMD2L |
|
Dynamin2 related distal myopathy - (AD) | 4.14 | | |  | * centronuclear myopathy, dominant - CNM |
|
Early onset distal myopathy with KLHL9 mutations - (AD) | 4.15 | | | | * Early onset distal myopathy with KLHL9 mutations |
|
Filamin C related distal myopathy - (AD) | 4.16 | | | Filamin C, gamma (actin-binding protein - 280)
|
|
|  | * Myopathy, myofibrillar, filamin C-related - MFM5 |  | * Myopathy, distal, 4 - MPD4 |  | * Cardiomyopathy, familial hypertrophic, 26 - CMH26 |
|
Distal myopathy with VCP defect - (AD) | 4.17 | | | Valosin-containing protein
|
|
|  | * Distal myopathy related to VCP - IBMPFD |  | * Inclusion body myopathy with early-onset paget disease and frontotemporal dement - IBMPFD |  | * Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - ALS14 |  | * Scapuloperoneal muscular dystrophy and dropped head syndrome |  | * Charcot-Marie-Tooth neuropathy Type 2Y - CMT2Y |
|
Adolescent onset distal myopathy - (AR) | 4.18 | | | Adénylosuccinate synthase-like
|
|
|  | * Adolescent onset distal myopathy |
|
Myopathy, distal, with rimmed vacuoles - (AD) | 4.19 | | |  | * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3 |  | * Myopathy, distal, with rimmed vacuoles - DMRV |
|
Myopathy, distal, with rimmed vacuoles - (AD) | 4.20 | | | HSP-40 homologue, subfamily B, number 6
|
|
|  | * Limb girdle muscular dystrophy 1D (autosomal dominant) - LGMD1D |
|