title: Epidermolysis bullosa simplex with muscular dystrophy associated withPLECdeletion 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.
authors.affiliation: 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.
authors.forename: Valeria Carolina
authors.initials: VC
authors.lastname: Alvarez
authors.affiliation: 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.
authors.forename: Sini Tellervo
authors.initials: ST
authors.lastname: Penttilä
authors.affiliation: 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.
authors.forename: Valeria Luján
authors.initials: VL
authors.lastname: Salutto
authors.affiliation: 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.
authors.forename: Bjarne
authors.initials: B
authors.lastname: Udd
authors.affiliation: 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.
authors.forename: Claudio Gabriel
authors.initials: CG
authors.lastname: Mazia