A novel missense mutation (W797R) in the myophosphorylase gene in spanish patients with McArdle disease

Roberta Fcmandcz, Carmen Navarro, Antonio L. Andren, Claudio Bruno, Sara Shanskc, José Gámcz, Susana Teijcira, Ifiigo Hemándcz, Alfonso Teijeiro, José M. Fernándcz, Olimpia Musumeci, Salvatore Dimauro

Research output: Contribution to journalArticle

Abstract

Objective: To investigate the degree of genetic heterogeneity of myophosphorylase deficiency (McArdle disease) in Spain through molecular studies of 10 new patients. Design: The coding sequence of the entire myophosphorylase gene was sequenced in DNA extracted from muscle and blood. Restriction fragment length polymorphism analysis of polymerase chain reaction fragments was used to confirm and simplify detection of a novel mutation. Setting: A collaborative study between 2 university laboratories in Spain and the United States. Results: Five of the 10 patients harbored a novel missense mutation in exon 20, converting a tryptophan to an arginine (W797R). Three patients were homozygous for the 'common' R49X mutation, and the remaining 2 patients were compound heterozygotes for R49X and a previously described missense mutation, G204S. Conclusions: The W797R missense mutation is the third novel mutation to be identified among Spanish patients. Its relative frequency suggests that it should be added to the R49X mutation in the molecular screening of McArdle disease in Spain.

Original languageEnglish
Pages (from-to)217-219
Number of pages3
JournalArchives of Neurology
Volume57
Issue number2
Publication statusPublished - Feb 2000

ASJC Scopus subject areas

  • Neuroscience(all)

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    Fcmandcz, R., Navarro, C., Andren, A. L., Bruno, C., Shanskc, S., Gámcz, J., Teijcira, S., Hemándcz, I., Teijeiro, A., Fernándcz, J. M., Musumeci, O., & Dimauro, S. (2000). A novel missense mutation (W797R) in the myophosphorylase gene in spanish patients with McArdle disease. Archives of Neurology, 57(2), 217-219.