A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease

Muscle Nerve. 2000 Jan;23(1):129-31. doi: 10.1002/(sici)1097-4598(200001)23:1<129::aid-mus20>3.0.co;2-f.

Abstract

We identified a novel missense mutation in the myophosphorylase gene (PYGM) in a Spanish patient with McArdle's disease. This homozygous T-to-C transition results in the replacement of a highly conserved tryptophan at amino acid position (aa) 797 with an arginine in the C-terminal domain of the PYGM protein. The lack of enzyme activity in the proband's muscle is consistent with a crucial role of the aa 797 in the normal function of the PYGM protein. Our data further expand the genetic heterogeneity in patients with McArdle's disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Substitution
  • DNA / genetics
  • Exons
  • Glycogen Storage Disease Type V / enzymology*
  • Glycogen Storage Disease Type V / genetics*
  • Humans
  • Male
  • Muscle Fatigue / genetics
  • Muscle, Skeletal / enzymology
  • Mutation, Missense / genetics*
  • Phosphorylases / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length

Substances

  • DNA
  • Phosphorylases