title: Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.
abstract: We report on 8 Dutch patients with McArdle's disease from 6 unrelated families. Molecular analysis revealed the presence of four previously described mutations: the common R49X mutation, the IVS14+1G>A mutation and the recently reported R269X and Y84X nonsense mutations; and two new molecular defects: a missense mutation R138W in the homozygous state in two siblings, and a frameshift mutation c.1797delT. This first genetic study of patients from The Netherlands with McArdle's disease confirms that the R49X mutation is also the most common in Dutch patients, and that there is genetic heterogeneity within this population. Moreover, our data support the hypothesis that the Y84X mutation is a relatively frequent mutation in McArdle's patients with a Central European background, and expand the already crowded map of mutations within the PYGM gene responsible for McArdle's disease.
authors.affiliation: Centro de Investigación, Hospital Universitario 12 de Octubre, Madrid, Spain.
authors.forename: M A
authors.initials: MA
authors.lastname: Martín
authors.forename: J C
authors.initials: JC
authors.lastname: Rubio
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: B G M
authors.initials: BG
authors.lastname: Van Engelen
authors.forename: G C H
authors.initials: GC
authors.lastname: Steenbergen
authors.forename: O P
authors.initials: OP
authors.lastname: Van Diggelen
authors.forename: M
authors.initials: M
authors.lastname: De Visser
authors.forename: C
authors.initials: C
authors.lastname: De Die-Smulders
authors.forename: A
authors.initials: A
authors.lastname: Blázquez
authors.forename: A L
authors.initials: AL
authors.lastname: Andreu
authors.forename: J
authors.initials: J
authors.lastname: Arenas
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D005260:Female; D018740:Genetic Heterogeneity; D024982:Glycogen Phosphorylase, Muscle Form / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009426:Netherlands
chemical_list: D017931:DNA Primers; D024982:Glycogen Phosphorylase, Muscle Form