[McArdle's disease in adults: clinical and genetic study].

Abstract excerpt

McArdle's disease is a rare metabolic myopathy resulting from an absence of functional muscle glycogen phosphorylase that is inherited as an autosomal recessive condition. Recent molecular genetic studies have identified more than ten different mutations in patients with McArdle's disease, although a nonsense point mutation at codon 49 in exon 1 (R49X) accounts for approximately 85% of mutant alleles in American...

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