Diagnosis of McArdle's disease by molecular genetic analysis of blood.

Abstract excerpt

We analyzed leukocyte DNA from 32 patients with suspected McArdle's disease, 24 of whom had biochemically or histochemically proven myophosphorylase deficiency. We found that 19 were homozygous for the most common mutation at codon 49, 2 were compound heterozygotes, and 1 was a manifesting heterozygote. In six patients, we could find only one mutant allele, suggesting a still unidentified mutation on the second...

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