Article
Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.
Annals of neurology - 1 Nov 2001
Martín M A, Rubio J C, Buchbinder J, Fernández-Hojas R, del Hoyo P, Teijeira S, Gámez J, Navarro C, Fernández J M, Cabello A, Campos Y, Cervera C, Culebras J M, Andreu A L, Fletterick R, Arenas J
Abstract excerpt
We report on 54 Spanish patients with McArdle's disease from 40 unrelated families. Molecular analysis revealed that the most common R49X mutation was present in 70% of patients and 55% of alleles. The G204S mutation was less frequent and found in 14.8% of patients and 9% of mutant alleles. The W797R mutation was observed in 16.5% of patients, accounting for 13.7% of mutant alleles. Moreover, 78% of mutant...
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