A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease

We identified a novel missense mutation in the myophosphorylase gene (PYGM) in a Spanish patient with McArdle's disease. This homozygous C-to-A mutation results in the replacement of a highly conserved alanine at amino acid position 659 with an aspartic acid in the C-terminal domain of the myophosphorylase gene protein, near binding sites for pyridoxal phosphate and glucose. Our data further expand the genetic heterogeneity in patients with McArdle's disease. (C) 2000 Elsevier Science B.V. All rights reserved.