Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin

Katharine Forrest, Jemima E. Mellerio, Stephanie Robb, Patricia J.C. Dopping-Hepenstal, John A. Mcgrath, Lu Liu, Stefan J.A. Buk, Safa Al-Sarraj, Elizabeth Wraige, Heinz Jungbluth

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Medicine & Life Sciences