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 | | | | * 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 |
|
| Distal myopathy with rimmed vacuoles (Nonaka) and Hereditary inclusion body myopathy - (AR) | 4.3 | | | UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase
|
|
| | * Inclusion body myopathy, autosomal recessive - IBM2 | | * Nonaka myopathy - NM |
|
| Distal myopathy (Laing) - (AD) | 4.4 | | | myosin, heavy polypeptide 7, cardiac muscle, beta
|
|
| | * Cardiomyopathy, dilated, 1S - CMD1S | | * cardiomyopathy, familial hypertrophic, 1, included - CMH1 | | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Myopathy, distal 1 - MPD1 | | * Myosin storage myopathy |
|
| Vocal cord and pharyngeal distal myopathy - (AD) | 4.5 | | | | * Myopathy, distal 2 - MPD2 |
|
| Adult onset distal myopathy - (AD) | 4.6 | | | | * Adult onset distal myopathy - MPD3 |
|
| Welander distal myopathy - (AD) | 4.7 | | | | * 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 | | | | * Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A | | * Myofibrillar myopathy, myotilin related - MFM3 | | * Spheroid body myopathy |
|
| Distal myopathy with nebulin defect - (AR) | 4.10 | | | | * Nemaline myopathy 2, autosomal recessive - NEM2 |
|
| Distal myopathy with caveolin defect - (AD) | 4.11 | | | | * 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 |
|
| Late onset distal myopathy (Markesbery-Griggs) - (AD) | 4.12 | | | | * cardiomyopathy, dilated 1C - CMD1C | | * myofibrillar myopathy ZASP-related - MFM4 |
|
| Early onset calf distal myopathy - (AR) | 4.13 | | | | * Early onset calf distal myopathy | | * Muscular dystrophy, limb-girdle, type 2L - LGMD2L |
|
| Early onset distal myopathy with KLHL9 mutations - (AD) | 4.14 | | | | * Early onset distal myopathy with KLHL9 mutations |
|
| Dynamin2 related distal myopathy - (AD) | 4.15 | | | | * centronuclear myopathy, dominant - CNM |
|
| Filamin C related distal myopathy - (AD) | 4.16 | | | filamin C, gamma (actin-binding protein - 280)
|
|
| | * Myopathy, distal, 4 - MPD4 | | * Myopathy, myofibrillar, filamin C-related - MFM5 |
|
| Distal myopathy with VCP defect - (AD) | 4.17 | - | | valosin-containing protein
|
|
| | * Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - ALS14 | | * Distal myopathy with VCP defect - IBMPFD | | * Inclusion body myopathy with early-onset paget disease and frontotemporal dement - IBMPFD |
|
