Novel compound heterozygous PLEC mutations lead to pure late-onset muscular dystrophy

Abstract

Limb-girdle muscular dystrophy 2Q (LGMD2Q) is a specific mutation in the plectin (PLEC) gene at chromosome 8q24.3. The major phenotypes of plectinassociated disorder were epidermolysis bullosa with or without skeletal muscle involvement. The phenotype of pure muscular dystrophy was rarely reported. Here we report a Chinese patient carrying a novel compound heterozygous PLEC mutations presenting with pure muscular dystrophy.