Molecular characterization of McArdle's disease in two large Finnish families

Claudio Bruno, Mervi Löfberg, Lucia Tamburino, Heidi Jänkälä, George M. Hadjigeorgiou, Antonio L. Andreu, Sara Shanske, Hannu Somer, Salvatore Dimauro

Research output: Contribution to journalArticle

Abstract

We have studied two large unrelated Finnish families with myophosphorylase deficiency (McArdle's disease). In one, we identified a new nonsense mutation at codon 540 in exon 14 of the myophosphorylase gene, changing an encoded glutamic acid to a stop codon (E540X). The second family carried a splice-junction mutation at the 5' splice site of intron 14 (1844+G→A), previously reported in one Caucasian patient and in a consanguineous Druze family. These data further enlarge the list of mutations associated with McArdle's disease and establish that McArdle's disease is genetically heterogeneous also within the Finnish population. Copyright (C) 1999 Elsevier Science B.V.

Original languageEnglish
Pages (from-to)121-125
Number of pages5
JournalJournal of the Neurological Sciences
Volume165
Issue number2
DOIs
Publication statusPublished - Jun 1 1999

Keywords

  • Glycogenosis type V
  • McArdle's disease
  • Metabolic myopathy
  • Myophosphorylase deficiency
  • Nonsense mutation
  • Splice-junction mutation

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Developmental Neuroscience
  • Neurology
  • Neuroscience(all)

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  • Cite this

    Bruno, C., Löfberg, M., Tamburino, L., Jänkälä, H., Hadjigeorgiou, G. M., Andreu, A. L., Shanske, S., Somer, H., & Dimauro, S. (1999). Molecular characterization of McArdle's disease in two large Finnish families. Journal of the Neurological Sciences, 165(2), 121-125. https://doi.org/10.1016/S0022-510X(99)00091-X