title: A missense mutation T487N in the myophosphorylase gene in a Spanish patient with McArdle's disease.
abstract: A heterozygous C-to-A substitution at codon 487, changing a highly conserved threonine to an asparagine (T487N) was identified in two siblings with McArdle's disease who were also heterozygous for the nonsense mutation at codon 49 (R49X). Our data further expand the genetic heterogeneity in patients with McArdle's disease.
authors.affiliation: Centro de Investigación, Hospital 12 de Octubre, Madrid, Spain.
authors.forename: J C
authors.initials: JC
authors.lastname: Rubio
authors.forename: M A
authors.initials: MA
authors.lastname: Martín
authors.forename: Y
authors.initials: Y
authors.lastname: Campos
authors.forename: A
authors.initials: A
authors.lastname: Cabello
authors.forename: J
authors.initials: J
authors.lastname: Arenas
mesh_terms: D000328:Adult; D005260:Female; D006012:Glycogen Storage Disease Type V / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D006005:Phosphorylases / Q000235:genetics*; D013030:Spain
chemical_list: D006005:Phosphorylases