Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease.

Abstract

We report two novel homozygous mutations in the myophosphorylase gene (PYGM) in a patient with McArdle's disease. A C-to-T transition that changed an arginine to tryptophan at codon 193 (R193W) in exon 5, and a deletion of two adenine base pairs in exon 20 at codon 794/795 (794/795 delAA) were identified. Several lines of evidence suggest the pathogenicity… (More)

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@article{Martn2000TwoHM, title={Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease.}, author={M. A. Mart{\'i}n and Julieta Rubio and Yvan Campos and Juan Jes{\'u}s V{\'i}lchez and Aurora Cabello and J. Arenas}, journal={Human mutation}, year={2000}, volume={15 3}, pages={294} }