A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease

Claudio Bruno, Lucia Tamburino, Noriko Kawashima, Antonio L. Andreu, Sara Shanske, George M. Hadjigeorgiou, Atsushi Kawashima, Salvatore DiMauro

Research output: Contribution to journalArticlepeer-review

Abstract

We identified a new mutation in the myophosphorylase gene in a Japanese family with McArdle's disease. This point mutation results in the replacement of a tryptophan at amino acid position 361 with a stop codon, the third nonsense mutation in this disorder. Our findings further expand the already wide spectrum of genetic lesions associated with McArdle's disease, and establish that molecular genetic heterogeneity is also present in the Japanese population.

Original languageEnglish
Pages (from-to)34-37
Number of pages4
JournalNeuromuscular Disorders
Volume9
Issue number1
DOIs
Publication statusPublished - Jan 1 1999

Keywords

  • McArdle's disease
  • Myophosphorylase gene
  • Nonsense mutation

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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