title: Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.
abstract: 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 limb-predominant weakness, facial weakness, ptosis, incomplete ophthalmoplegia, and paroxysmal atrial fibrillation.
authors.affiliation: Children's Neuroscience Centre, Royal Children's Hospital Melbourne, Flemington Road, Parkville, Victoria 3052, Australia.
authors.forename: Eppie M
authors.initials: EM
authors.lastname: Yiu
authors.forename: Alfred
authors.initials: A
authors.lastname: Klausegger
authors.forename: Leigh B
authors.initials: LB
authors.lastname: Waddell
authors.forename: Nikolaus
authors.initials: N
authors.lastname: Grasern
authors.forename: Lyn
authors.initials: L
authors.lastname: Lloyd
authors.forename: Kim
authors.initials: K
authors.lastname: Tran
authors.forename: Kathryn N
authors.initials: KN
authors.lastname: North
authors.forename: Johann W
authors.initials: JW
authors.lastname: Bauer
authors.forename: Penelope
authors.initials: P
authors.lastname: McKelvie
authors.forename: C W
authors.initials: CW
authors.lastname: Chow
authors.forename: Monique M
authors.initials: MM
authors.lastname: Ryan
authors.forename: Dedee F
authors.initials: DF
authors.lastname: Murrell
mesh_terms: D000328:Adult; D000367:Age Factors; D004820:Epidermolysis Bullosa / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation / Q000235:genetics; D051190:Plectin / Q000172:deficiency* / Q000235:genetics*
chemical_list: C495332:PLEC protein, human; D051190:Plectin