A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease

Neuromuscul Disord. 2000 Aug;10(6):447-9. doi: 10.1016/s0960-8966(99)00124-8.

Abstract

We identified a novel missense mutation in the myophosphorylase gene (PYGM) in a Spanish patient with McArdle's disease. This homozygous C-to-A mutation results in the replacement of a highly conserved alanine at amino acid position 659 with an aspartic acid in the C-terminal domain of the myophosphorylase gene protein, near binding sites for pyridoxal phosphate and glucose. 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
  • Binding Sites / genetics
  • Biopsy
  • Conserved Sequence
  • DNA Mutational Analysis
  • Glycogen Storage Disease Type V / diagnosis*
  • Glycogen Storage Disease Type V / genetics*
  • Homozygote*
  • Humans
  • Male
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / pathology
  • Mutation, Missense / genetics*
  • Phosphorylases / genetics*
  • Phosphorylases / metabolism
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Spain

Substances

  • Phosphorylases