Molecular genetic analysis of McArdle's disease in Spanish patients

A. L. Andreu, C. Bruno, J. Gamez, S. Shanske, C. Cervera, C. Navarro, M. A. Arbos, L. Tamburino, S. Schwartz, Salvatore DiMauro

Research output: Contribution to journalArticlepeer-review

Abstract

We analyzed leukocyte DNA of 19 patients from 12 Spanish families with McArdle's disease (myophosphorylase deficiency). In 15 patients, the enzyme defect was documented histochemically in muscle, and in four the diagnosis was based on clinical and laboratory data. Three patients were homozygous and six were heterozygous for the nonsense mutation at codon 49 (R49X). Our findings indicate that the R49X mutation, which is common in English and American patients, is also present in Spanish patients with McArdle's disease, but at a lower frequency.

Original languageEnglish
Pages (from-to)260-262
Number of pages3
JournalNeurology
Volume51
Issue number1
Publication statusPublished - Jul 1998

ASJC Scopus subject areas

  • Neuroscience(all)

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