Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
DES Desmin       | 2q35 | * Myopathy, cardiomyopathy and congenital myasthenic syndrome - (5.1, 5.15, 10.135, 10.47, 11.44)* Desmin-related myopathy - DRM (5.1, 5.15, 5.15, 10.135, 10.47, 11.44)* Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7 (5.1, 5.1, 5.15, 5.15, 10.135, 10.47, 11.44)* Myofibrillar myopathy 1 - MFM1 (5.1, 5.1, 5.15, 5.15, 10.135, 10.47, 11.44)* Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E (5.1, 5.1, 5.15, 5.15, 10.135, 10.47, 11.44)* Dilated cardiomyopathy, 1I - CMD1I (5.1, 5.1, 5.15, 5.15, 10.135, 10.47, 11.44)* Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R (5.1, 5.1, 5.15, 5.15, 10.135, 10.47, 11.44) |