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

Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation

Valeria Carolina Alvarez  1 , Sini Tellervo Penttilä  1 , Valeria Luján Salutto  1 , Bjarne Udd  1 , Claudio Gabriel Mazia  1
Affiliations

Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation

Valeria Carolina Alvarez et al. Neurol Genet. .

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.

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References

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