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Epidermolysis bullosa simplex with muscular dystrophy associated with deletion mutation.
Neurol Genet
December 2016
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.
Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disorder characterized by neonatal blistering and later-onset muscle weakness.
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