Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
PLEC Plectin       | 8q24.3 | * Myasthenic syndrome, with plectin defect - (1.35, 1.59, 5.27, 11.36) * Limb girdle muscular dystrophy with ophthalmoplegia - (1.35, 1.59, 5.27, 11.36) * Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS (1.35, 1.59, 5.27, 11.36)* Limb-girdle, muscular dystrophy, type 2q - LGMD2Q (1.35, 1.59, 5.27, 11.36) |