| 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 | | * 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 |
|
| 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 |
|
| 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 |
|
