Article
Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.
Muscle & nerve - 1 Jul 2011
Yiu Eppie M, Klausegger Alfred, Waddell Leigh B, Grasern Nikolaus, Lloyd Lyn, Tran Kim, North Kathryn N, Bauer Johann W, McKelvie Penelope, Chow C W, Ryan Monique M, Murrell Dedee F
Abstract excerpt
Epidermolysis bullosa associated with muscular dystrophy is a rare, autosomal recessive form of epidermolysis bullosa simplex caused by mutations in the plectin gene, PLEC1. We describe a phenotypically mild case due to compound heterozygous mutations in PLEC1 (2677_2685del and the novel mutation Q1644X). Clinical features included mild skin blistering since birth, slowly progressive and late-onset upper...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.