Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Myofibrillar myopathy, alpha-B crystallin related - (AD) | 5.1 | | | | * Dilated cardiomyopathy, with alpha-crystallin defect |  | * Myofibrillar myopathy, alpha-B crystallin related | | * Myopathy, myofibrillar, 2 - MFM2 |
|
| Myofibrillar myopathy, desmin-related myopathy - (AD) | 5.2 | | | | * Desmin-related myopathy - DRM | | * Dilated cardiomyopathy, 1I - CMD1I | | * Myofibrillar myopathy, desmin-related myopathy |
|
| Desmin-related myopathy with Mallory bodies - (AD) | 5.3 | | | | * Desmin-related myopathy with Mallory bodies - RSMD1 | | * Multiminicore disease, classical form | | * Muscular dystrophy, rigid spine, 1 - MDRS1 | | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Rigid spine syndrome - RSS |
|
| Myopathy myofibrillar - (AD) | 5.4 | | | | * cardiomyopathy, dilated 1C - CMD1C | | * myofibrillar myopathy ZASP-related - MFM4 |
|
| Myofibrillar myopathy with arrythmogenic right ventricular cardiomyopathy - (AD) | 5.5 | | | | * arrhythmogenic right ventricular dysplasia, familial, 7 - ARVD7 |
|
| Myopathy myofibrillar - (AD) | 5.6 | | | | * Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A | | * Myofibrillar myopathy, myotilin related - MFM3 | | * Spheroid body myopathy |
|
| Spheroid body myopathy - (AD) | 5.7 | | | | * Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A | | * Myofibrillar myopathy, myotilin related - MFM3 | | * Spheroid body myopathy |
|
| Myofibrillar myopathy, filamin-C related - (AD) | 5.8 | | | filamin C, gamma (actin-binding protein - 280)
|
|
| | * Myopathy, distal, 4 - MPD4 | | * Myopathy, myofibrillar, filamin C-related - MFM5 |
|
| Myofibrillar myopathy with BAG3 defect - (AD) | 5.9 | | | BCL2-associated athanogene 3
|
|
| | * myofibrillar myopathy with bag3 defect |
|
| Danon disease - (XD) | 5.10 | | | lysosomal-associated membrane protein 2 precursor
|
|
| | * Danon disease | | * Glycogen storage disease IIb - GSD2B |
|
| Myopathy with excessive autophagia - (XR) | 5.11 | | | | * Myopathy, X-linked, with excessive autophagy - XMEA |
|
| Oculopharyngeal muscular dystrophy - (AD) | 5.12 | | | poly(A) binding protein, nuclear 1
|
|
| | * Oculopharyngeal muscular dystorphy - OPMD |
|
| Autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement (Edstrom myopathy) - (AD) | 5.13 | | | | * 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 |
|
| Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - (AR) | 5.14 | | | plectin 1, intermediate filament binding protein 500kDa
|
|
| | * Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS | | * Limb-girdle, muscular dystrophy, type 2q - LGMD2Q | | * Myasthenic syndrome, with plectin defect |
|
| Muscle hypertrophy - (AR) | 5.15 | | | myostatin, muscular hypertrophy
|
|
| | * Muscle hypertrophy - MSLHP |
|
| Fibrodysplasia ossificans progressiva - (AD) | 5.16 | | | activin A receptor, type II-like kinase 2
|
|
| | * Fibrodysplasia ossificans progressiva - FOP |
|
| Hyperckemia, idiopathic - (AD) | 5.17 | | | | * 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 |
|
| X-linked myopathy with postural muscle atrophy - (XR) | 5.18 | | | four and a half LIM domain 1
|
|
| | * Emery-dreifuss muscular dystrophy 6 - EDMD6 | | * Myopathy, reducing body, X-linked, childhood-onset | | * Myopathy, reducing body, X-linked, severe early-onset | | * rigid spine muscular dystrophy 1 - RSMD1 | | * Scapuloperoneal myopathy - XPMD | | * X-linked myopathy with postural muscle atrophy - XMPMA |
|
| Scapuloperoneal myopathy - (XD) | 5.19 | | | four and a half LIM domain 1
|
|
| | * Emery-dreifuss muscular dystrophy 6 - EDMD6 | | * Myopathy, reducing body, X-linked, childhood-onset | | * Myopathy, reducing body, X-linked, severe early-onset | | * rigid spine muscular dystrophy 1 - RSMD1 | | * Scapuloperoneal myopathy - XPMD | | * X-linked myopathy with postural muscle atrophy - XMPMA |
|
| Reducing body myopathy - (XD) | 5.20 | | | four and a half LIM domain 1
|
|
| | * Emery-dreifuss muscular dystrophy 6 - EDMD6 | | * Myopathy, reducing body, X-linked, childhood-onset | | * Myopathy, reducing body, X-linked, severe early-onset | | * rigid spine muscular dystrophy 1 - RSMD1 | | * Scapuloperoneal myopathy - XPMD | | * X-linked myopathy with postural muscle atrophy - XMPMA |
|
| Episodic muscle weakness, X-linked - (XR) | 5.21 | | | | * episodic muscle weakness, x-linked - EMWX |
|
| Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia - (AD) | 5.22 | | | 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 |
|
| Myopathy with exercise intolerance, Swedish type - (AR) | 5.23 | | | iron-sulfur cluster scaffold homolog (E. coli)
|
|
| | * myopathy with deficiency of succinate dehydrogenase and aconitase | | * myopathy with exercise intolerance, swedish type | | * myopathy with lactic acidosis, hereditary - HML |
|
