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 | | Myopathy, distal, with anterior tibial onset -DMAT |
|
| Tibial muscular dystrophy (Udd myopathy) - (AD) | 4.2 | | | | Cardiomyopathy, dilated, 1G -CMD1G | | Cardiomyopathy, familial hypertrophic, 9 -CMH9 | | 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, 1A -CMD1A | | Cardiomyopathy, dilated, 1S -CMD1S | | cardiomyopathy, dilated, 1s, included -CMD1S | | cardiomyopathy, familial hypertrophic, 1, included -CMH1 | | Familial hypertrophic cardiomyopathy -FHC1 | | Myopathy, distal 1 -MPD1 | | Myosin storage myopathy -MYH7 |
|
| 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 | | Muscular dystrophy, proximal, type 1A -LGMD1 | | Myopathy myofibrillar -MFM |
|
| 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 | | Hyperckemia, idiopathic -CAV3 | | 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 -MFMZ |
|
| Dynamin2 related distal myopathy - (AD) | 4.13 | | | | Charcot-Marie-Tooth disease, dominant intermediate B -CMTDIB | | congenital muscular dystrophy with dynamin 2 defect - | | dynamin2 related distal myopathy -CNM | | Myopathy, centronuclear, autosomal dominant -CNM |
|
