Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
Open Access
- 22 July 1993
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 329 (4) , 241-245
- https://doi.org/10.1056/nejm199307223290404
Abstract
Myophosphorylase deficiency (McArdle's disease) is one of the most common causes of exercise intolerance, muscle cramps, and recurrent myoglobinuria. The myophosphorylase gene has been sequenced and assigned to chromosome 11, but the molecular basis of McArdle's disease is not known. We sequenced complementary DNA in 4 patients and studied genomic DNA by restriction-endonuclease analysis in 40 patients with McArdle's disease.Keywords
This publication has 24 references indexed in Scilit:
- Mutations and polymorphisms in the pyruvate dehydrogenase E1α geneHuman Mutation, 1992
- Molecular heterogeneity in McArdle's diseaseBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1990
- Fatal Infantile Muscle Phosphorylase DeficiencyJournal of Child Neurology, 1989
- McArdle's disease: Biochemical and molecular genetic studiesAnnals of Neurology, 1988
- Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis.Journal of Clinical Investigation, 1987
- High-Resolution Chromosome Sorting and DNA Spot-Blot Analysis Assign McArdle's Syndrome to Chromosome 11Science, 1984
- The structure of glycogen phosphorylase a at 2.5 Å resolutionJournal of Molecular Biology, 1979
- Ribonucleic acid isolated by cesium chloride centrifugationBiochemistry, 1974
- McArdle-Syndrom (Myopathie bei fehlender Muskelphosphorylase)Klinische Wochenschrift, 1967
- CHRONIC PROGRESSIVE MYOPATHY WITH MYOGLOBINURIA: DEMONSTRATION OF A GLYCOGENOLYTIC DEFECT IN THE MUSCLE*Journal of Clinical Investigation, 1959