A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact

Muscle Nerve. 1999 Aug;22(8):1136-8. doi: 10.1002/(sici)1097-4598(199908)22:8<1136::aid-mus21>3.0.co;2-2.

Abstract

We have identified a novel missense mutation in the myophosphorylase gene in a Spanish patient with McArdle's disease. The patient was homozygous for a T-to-C transition at codon 115 (L115P) in exon 3, which changed an encoded leucine (CUG) to a proline (CCG). This is the first mutation to be described in exon 3 and in a protein domain related to dimer contact. These data further emphasize the importance of private mutations in McArdle's disease, some of which are associated with specific ethnic groups.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Glycogen Phosphorylase, Muscle Form / genetics*
  • Glycogen Storage Disease Type V / genetics*
  • Glycogen Storage Disease Type V / pathology*
  • Humans
  • Male
  • Middle Aged
  • Muscles / pathology*
  • Mutation, Missense / genetics*
  • Polymerase Chain Reaction
  • Spain

Substances

  • Glycogen Phosphorylase, Muscle Form