Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation.

ABSTRACT: Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disorder characterized by neonatal blistering and later-onset muscle weakness.

SUBMITTER: Alvarez VC 

PROVIDER: S-EPMC5061415 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature