A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease

Antonio L. Andreu, Claudio Bruno, Lucia Tamburino, Josep Gamez, Sara Shanske, Carlos Cervera, Carmen Navarro, Salvatore Dimauro

Research output: Contribution to journalArticlepeer-review

Abstract

We have identified a novel missense mutation, an A-T transition at codon 684 in exon 17, changing an encoded asparagine to a tyrosine (Asn684Tyr) in a Spanish patient with typical McArdle's disease. The patient was a compound heterozygote, with a previously-described mutation (Gly204Ser) on the other allele. This report expands the molecular genetic heterogeneity in McArdle's disease, emphasizes the presence of private mutations in specific ethnic groups, and indicates that geographic origin must be considered before undertaking DNA analysis for diagnosis. Copyright (C) 1999 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)171-173
Number of pages3
JournalNeuromuscular Disorders
Volume9
Issue number3
DOIs
Publication statusPublished - May 1 1999

Keywords

  • Asn684Tyr
  • McArdle's disease
  • Myophosphorylase

ASJC Scopus subject areas

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

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