A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease

Mol Genet Metab. 2001 Dec;74(4):489-91. doi: 10.1006/mgme.2001.3252.

Abstract

We identified a novel nonsense mutation in the myophoshorylase gene in a patient of Italian origin with McArdle disease. This homozygous C-to-T transition (805C > T) results in the replacement of a arginine at amino acid position 269 with a stop codon (R269X). Our data further expand the genetic heterogeneity in patients with McArdle disease.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Codon, Nonsense*
  • Female
  • Genetic Heterogeneity
  • Glycogen Phosphorylase, Muscle Form / genetics*
  • Glycogen Storage Disease Type V / enzymology
  • Glycogen Storage Disease Type V / genetics*
  • Humans

Substances

  • Codon, Nonsense
  • Glycogen Phosphorylase, Muscle Form