Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
PLEC
plectin




8q24.3
* Myasthenic syndrome, with plectin defect - (1.37, 1.48, 5.17, 11.22)
* Limb girdle muscular dystrophy with ophthalmoplegia - (1.37, 1.48, 5.17, 11.22)
* Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS (1.37, 1.48, 5.17, 11.22)
* Limb-girdle, muscular dystrophy, type 2q - LGMD2Q (1.37, 1.48, 5.17, 11.22)