Article
Molecular genetic analysis of McArdle's disease in Spanish patients.
Neurology - 1 Jul 1998
Andreu A L, Bruno C, Gamez J, Shanske S, Cervera C, Navarro C, Arbos M A, Tamburino L, Schwartz S, DiMauro S
Abstract excerpt
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,...
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