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

Josep Gamez, Roberto Fernandez, Claudio Bruno, Antonio L. Andreu, Carlos Cervera, Carmen Navarro, Simon Schwartz, Salvatore Dimauro

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1136-1138
Number of pages3
JournalMuscle and Nerve
Volume22
Issue number8
DOIs
Publication statusPublished - Aug 1999

Keywords

  • McArdle's disease
  • Mutation
  • Myophosphorylase

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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