| Disease phenotype | Item
in
this
table | Key
references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Miyoshi muscular dystrophy 1 - (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 | | * LGMDR10 (Formerly LGMD2J) | | * Lethal Congenital Contracture Syndrome 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 |
|
| Nonaka Myopathy - (AR) | 4.3 | | | UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase
|
|
| | * Nonaka myopathy - NM | | * Inclusion body myopathy, autosomal recessive - IBM2 |
|
| Distal myopathy 1 (Laing) - (AD) | 4.4 | | | Myosin, heavy polypeptide 7, cardiac muscle, beta
|
|
| | * Cardiomyopathy, dilated, 1S - CMD1S | | * Myopathy, distal 1 - MPD1 | | * cardiomyopathy, familial hypertrophic, 1, included - CMH1 | | * Left ventricular noncompaction 5 - LVNC5 | | * Myosin storage myopathy |
|
| Vocal cord and pharyngeal distal myopathy (VCPDM) reclassfied as ALS21 - (AD) | 4.5 | | | | * Vocal cord and pharyngeal distal myopathy - VCPDM | | * Familial amyotrophic lateral sclerosis - ALS21 |
|
| Myopathy distal 3 - (AD) | 4.6 | | | | * Adult onset distal myopathy - MPD3 |
|
| Welander distal myopathy - (AD) | 4.7 | | | Cytotoxic granuleassociated RNA binding protein
|
|
| | * Welander distal myopathy - WDM |
|
| Welander-like distal myopathy - (Digenic) | 4.8 | | | | Cytotoxic granuleassociated RNA binding protein
|
|
| | * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3 | | * Myopathy, distal, with rimmed vacuoles - DMRV | | * Welander-like distal myopathy | | * Welander distal myopathy - WDM |
|
| Vacuolar neuromyopathy - (AD) | 4.9 | | | | * Muscular dystrophy, autosomal dominant, with rimmed vacuoles - MDRV |
|
| Distal myopathy with myotilin defect - (AD) | 4.10 | | | | * Myofibrillar myopathy, myotilin related - MFM3 | | * Spheroid body myopathy | | * Left ventricular hypertrabeculation/non compaction | | * Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A |
|
| Distal myopathy with nebulin defect - (AR) | 4.11 | | | | * Distal myopathy with nebulin defect | | * Nemaline myopathy 2, autosomal recessive - NEM2 |
|
| Distal myopathy with nebulin defect - (AD) | 4.12 | | | | * Distal myopathy with nebulin defect | | * Nemaline myopathy 2, autosomal recessive - NEM2 |
|
| Distal myopathy with caveolin defect - (AD) | 4.13 | | | | * Distal myopathy related to caveolin | | * cardiomyopathy, familial hypertrophic - CMH | | * Creatine phosphokinase, elevated serum - CPK | | * Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) | | * 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) | 4.14 | | | | * myofibrillar myopathy ZASP-related - MFM4 | | * cardiomyopathy, dilated 1C - CMD1C | | * Hypertrophic cardiomyopathy related to ZASP - CMH24 | | * Left ventricular noncompaction 3 - LVNC3 |
|
| Miyoshi muscular dystrophy 3 - (AR) | 4.15 | | | | * Miyoshi muscular dystrophy 3
- MMD3 | | * Muscular dystrophy, limb-girdle, autosomal recessive 12 - LGMDR12 |
|
| Distal myopathy related to DNM2 - (AD) | 4.16 | | | | * Charcot-Marie-Tooth disease, dominant intermediate B - CMTDIB | | * Myopathy centronuclear, 1 - CNM1 | | * Lethal Congenital Contracture Syndrome 5 - LCCS5 |
|
| Early onset distal myopathy with KLHL9 mutations - (AD) | 4.17 | | | | * Early onset distal myopathy with KLHL9 mutations |
|
| Distal Myopathy 4 - (AD) | 4.18 | | | Filamin C, gamma (actin-binding protein - 280)
|
|
| | * Myopathy, myofibrillar, filamin C-related - MFM5 | | * Myopathy, distal, 4 - MPD4 | | * Cardiomyopathy, familial hypertrophic, 26 - CMH26 |
|
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 - (AD) | 4.19 | | | Valosin-containing protein
|
|
| | * Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 - IBMPFD1 | | * 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 |
|
| Distal myopathy 5 - (AR) | 4.20 | | | Adénylosuccinate synthase-like
|
|
| | * Adolescent onset distal myopathy |
|
| Myopathy, distal, with rimmed vacuoles - (AD) | 4.21 | | | | * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3 | | * Myopathy, distal, with rimmed vacuoles - DMRV | | * Welander-like distal myopathy |
|
| Myopathy, distal, with rimmed vacuoles - (AD) | 4.22 | | | HSP-40 homologue, subfamily B, number 6
|
|
| | * LGMDD1 |
|
| Distal myopathy - (AD) | 4.23 | | | HSP-40 homologue, subfamily B, number 6
|
|
| | * LGMDD1 |
|
| Rimmed vacuole myopathy - (AD) | 4.24 | | | Heat shock 27kDa protein 8
|
|
| | * Neuropathy, distal hereditary motor, type II - HMN2A | | * Rimmed vacuole myopathy | | * Charcot-Marie-Tooth neuropathy Type 2L - CMT2L |
|
| Distal Myopathy 6, Adult-onset - (AR) | 4.25 | | | | * Hypertrophic cardiomyopathy related to actinin-2 | | * dilated cardiomyopathy, 1aa - CMD1AA | | * Myopathy congenital related to ACTN2 |
|
| Distal Myopathy and motor neuropathy - (AD) | 4.26 | | | Heat shock 27kDa protein 8
|
|
| | * Neuropathy, distal hereditary motor, type II - HMN2A | | * Rimmed vacuole myopathy | | * Charcot-Marie-Tooth neuropathy Type 2L - CMT2L |
|
