Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of alpha-Dystroglycan

29 - 41

10.1016/j.ajhg.2013.05.009

AMERICAN JOURNAL OF HUMAN GENETICS

0002-9297

Carss, KJ; Stevens, E; Foley, AR; Cirak, S; Riemersma, M; Torelli, S; Hoischen, A; Willer, T; van Scherpenzeel, M; Moore, SA