Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease

Claudio Bruno, Roberta Lanzillo, Claudia Biedi, Lucia Iadicicco, Carlo Minetti, Lucio Santoro

Research output: Contribution to journalArticlepeer-review

Abstract

We report two new mutations in the myophosphorylase gene (PYGM) in two unrelated Italian patients with myophosphorylase deficiency (McArdle's disease). In one, we identified a missense C-to-T mutation at codon 269 in exon 7, changing CGA (arginine) to TGA (stop codon) (R269X). The second patient carried a G-to-C mutation, changing GCT (alanine) to CCT (proline) at codon 686 (A686P) in exon 17. Both were compound heterozygous, with the common mutation at codon 49 (R49X) on the other allele. Our data further expand the genetic heterogeneity in patients with McArdle's disease, suggesting that the possibility of novel mutations has to be taken into account when performing genetic analysis in distinct ethnic groups.

Original languageEnglish
Pages (from-to)498-500
Number of pages3
JournalNeuromuscular Disorders
Volume12
Issue number5
DOIs
Publication statusPublished - 2002

Keywords

  • McArdle's disease
  • Mutations
  • Myophosphorylase deficiency

ASJC Scopus subject areas

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

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