Article
Molecular Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease)
22 Jul 1993
Abstract excerpt
BACKGROUND AND METHODS: 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...