title: Diagnosis of McArdle's disease by molecular genetic analysis of blood.
abstract: 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 allele. We were unable to identify any of the known mutations in four patients. Our findings indicate that the diagnosis of McArdle's disease can be established in approximately 90% of patients using DNA isolated from leukocytes, thereby avoiding muscle biopsy.
authors: H.Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia Presbyterian Medical Center, New York, NY 10032, USA.
authors: M
authors: M
authors: el-Schahawi
authors: S
authors: S
authors: Tsujino
authors: S
authors: S
authors: Shanske
authors: S
authors: S
authors: DiMauro
mesh_terms: D000328:Adult; D004247:DNA / Q000032:analysis; D005260:Female; D006012:Glycogen Storage Disease Type V / Q000097:blood* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D006005:Phosphorylases / Q000172:deficiency
chemical_list: D004247:DNA; D006005:Phosphorylases