Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
DES
Desmin




2q35
* Desmin-related myopathy - DRM (1.17, 1.38, 5.2, 10.38)
* Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7 (1.17, 1.38, 5.2, 10.38)
* Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E (1.17, 1.38, 5.2, 10.38)
* Dilated cardiomyopathy, 1I - CMD1I (1.17, 1.38, 5.2, 10.38)
* Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R (1.17, 1.38, 5.2, 10.38)