title: The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I.
authors.forename: Martin
authors.initials: M
authors.lastname: Brockington
authors.forename: Derek J
authors.initials: DJ
authors.lastname: Blake
authors.forename: Susan C
authors.initials: SC
authors.lastname: Brown
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D016695:Glycosyltransferases / Q000235:genetics*; D006801:Humans; D009136:Muscular Dystrophies / Q000151:congenital* / Q000235:genetics*; D009154:Mutation; D010430:Pentosyltransferases; D011506:Proteins / Q000235:genetics*
chemical_list: D011506:Proteins; D016695:Glycosyltransferases; C443107:FKRP protein, human; D010430:Pentosyltransferases