Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
PLEC1
plectin 1, intermediate filament binding protein 500kDa

8q24
* Myasthenic syndrome, with plectin defect - (1.34, 5.14, 11.22)
* Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS (1.34, 5.14, 11.22)
* Limb-girdle, muscular dystrophy, type 2q - LGMD2Q (1.34, 5.14, 11.22)

Gene symbol and protein	Gene Location	All allelic disease phenotypes - locus/disease symbols
PLEC1 plectin 1, intermediate filament binding protein 500kDa	8q24	* Myasthenic syndrome, with plectin defect - (1.34, 5.14, 11.22) * Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS (1.34, 5.14, 11.22) * Limb-girdle, muscular dystrophy, type 2q - LGMD2Q (1.34, 5.14, 11.22)