Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation

Valeria Carolina Alvarez; Sini Tellervo Penttilä; Valeria Luján Salutto; Bjarne Udd; Claudio Gabriel Mazia

doi:10.1212/NXG.0000000000000109

Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation

Neurol Genet. 2016 Oct 11;2(6):e109. doi: 10.1212/NXG.0000000000000109. eCollection 2016 Dec.

Authors

Valeria Carolina Alvarez¹, Sini Tellervo Penttilä¹, Valeria Luján Salutto¹, Bjarne Udd¹, Claudio Gabriel Mazia¹

Affiliation

¹ Instituto de Investigaciones Médicas Dr. A. Lanari (V.C.A., V.L.S., C.G.M.), Buenos Aires, Argentina; Neuromuscular Research Center (S.T.P., B.U.), Tampere University and University Hospital, Folkhälsan Genetic Institute (B.U.), and Vasa Central Hospital (B.U.), Finland.

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.