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 |
|
Miyoshi muscular dystrophy 2 - (AR) | 4.2 | | |  | * Miyoshi muscular dystrophy 2 - MMD2 |
|
Miyoshi muscular dystrophy 3 - (AR) | 4.3 | | |  | * Miyoshi muscular dystrophy 3
- MMD3 |  | * Muscular dystrophy, limb-girdle, autosomal recessive 12 - LGMDR12 | | * Muscular dystrophy with gnathodiaphyseal dysplasia |
|
Tibial muscular dystrophy (Udd myopathy) - (AD) | 4.4 | | |  | * 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 |  | * Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) - CMYP5 (SALMY) |  | * 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) | 4.5 | | | UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase
|
|
|  | * Nonaka myopathy - NM |  | * Inclusion body myopathy, autosomal recessive - IBM2 |
|
Myopathy, Distal, 1 (Laing) - (AD) | 4.6 | | | Myosin, heavy polypeptide 7, cardiac muscle, beta
|
|
|  | * Cardiomyopathy, dilated, 1S - CMD1S |  | * Myopathy, distal 1 - MPD1 |  | * cardiomyopathy, familial hypertrophic, 1, included - CMH1 |  | * Congenital myopathy 7B, myosin storage, autosomal recessive - CMYP7B |  | * Congenital myopathy 7A, myosin storage, autosomal dominant - CMYP7A |  | * Left ventricular noncompaction 5 - LVNC5 |  | * Myopathy, myosin storage, autosomal dominant - MSMB |  | * Myosin storage myopathy |
|
Myopathy, Distal 3 - (AD) | 4.7 | | | Heterogeneous nuclear ribonucleoprotein A1
|
|
|  | * Isolated inclusion body myopathy - IBMPFD3 |  | * Amyotrophic lateral sclerosis 20 - ALS20 |  | * Myopathy, Distal 3 - MPD3 |
|
Myopathy, distal, 4 - (AD) | 4.8 | | | Filamin C, gamma (actin-binding protein - 280)
|
|
|  | * Myopathy, myofibrillar, filamin C-related - MFM5 |  | * Myopathy, distal, 4 - MPD4 |  | * Cardiomyopathy, familial hypertrophic, 26 - CMH26 |
|
Myopathy, distal, 5 - (AR) | 4.9 | | | Adenylosuccinate synthase 1
|
|
|  | * Myopathy, distal, 5 - MPD5 |
|
Myopathy, distal 6, Adult-onset - (AR) | 4.10 | | | | * Hypertrophic cardiomyopathy related to actinin-2 |  | * dilated cardiomyopathy, 1aa - CMD1AA |  | * Myopathy, distal 6, Adult-onset - MPD6 |  | * Congenital myopathy 8 - CMYP8 |
|
Myopathy, distal, 7 adult onset, X-linked - (XLD) | 4.11 | | | Small Muscle Protein, X-linked
|
|
|  | * Myopathy, distal, 7 adult onset, X-linked - MPD7 |
|
Myopathy distal, Tateyama type - (AD) | 4.12 | | |  | * Myopathy distal, Tateyama type - MPDT |  | * 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 |
|
Vocal cord and pharyngeal distal myopathy (VCPDM) reclassfied as ALS21 - (AD) | 4.13 | | |  | * Vocal cord and pharyngeal distal myopathy - VCPDM |  | * Familial amyotrophic lateral sclerosis - ALS21 |
|
Welander distal myopathy - (AD) | 4.14 | | | Cytotoxic granuleassociated RNA binding protein
|
|
|  | * Welander distal myopathy - WDM |
|
Welander-like distal myopathy - (Digenic) | 4.15 | | | | 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 |
|
Distal myopathy with myotilin defect - (AD) | 4.16 | | |  | * Myofibrillar myopathy, myotilin related - MFM3 |  | * Spheroid body myopathy |  | * Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A |
|
Distal myopathy with nebulin defect - (AR) | 4.17 | | | | * Distal myopathy with nebulin defect |  | * Nemaline myopathy 2, autosomal recessive - NEM2 |
|
Distal myopathy with nebulin defect - (AD) | 4.18 | | | | * Distal myopathy with nebulin defect |  | * Nemaline myopathy 2, autosomal recessive - NEM2 |
|
Late onset distal myopathy (Markesbery-Griggs) - (AD) | 4.19 | | |  | * myofibrillar myopathy ZASP-related - MFM4 |  | * cardiomyopathy, dilated 1C - CMD1C |  | * Hypertrophic cardiomyopathy related to ZASP - CMH24 |  | * Left ventricular noncompaction 3 - LVNC3 |
|
Distal myopathy related to DNM2 - (AD) | 4.20 | | |  | * 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) | 4.21 | | | | * Early onset distal myopathy with KLHL9 mutations |
|
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 - (AD) | 4.22 | | | 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 |
|
Myopathy, distal, with rimmed vacuoles - (AD) | 4.23 | | |  | * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3 |  | * Myopathy, distal, with rimmed vacuoles - DMRV | | * Welander-like distal myopathy |
|
Myopathy, distal, with rimmed vacuoles - (AD) | 4.24 | | | HSP-40 homologue, subfamily B, number 6
|
|
|  | * LGMDD1 |
|
Distal myopathy - (AD) | 4.25 | | | HSP-40 homologue, subfamily B, number 6
|
|
|  | * LGMDD1 |
|
Distal Myopathy - (AD) | 4.26 | | | |
Rimmed vacuole myopathy - (AD) | 4.27 | | | Heat shock 27kDa protein 8
|
|
|  | * Neuropathy, distal hereditary motor, type II - HMN2A | | * Rimmed vacuole myopathy |  | * Charcot-Marie-Tooth neuropathy Type 2L - CMT2L |
|
Distal Myopathy and motor neuropathy - (AD) | 4.28 | | | Heat shock 27kDa protein 8
|
|
|  | * Neuropathy, distal hereditary motor, type II - HMN2A | | * Rimmed vacuole myopathy |  | * Charcot-Marie-Tooth neuropathy Type 2L - CMT2L |
|
Distal myopathy, late-onset - (AD) | 4.29 | | |  | * amyotrophic lateral sclerosis 10 - ALS10 | | * Distal myopathy, late-onset |
|