Article
Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.
Muscle & nerve - 1 Sept 2003
Gámez Josep, Rubio Juan C, Martín Miguel A, Fernández-Cadenas Israel, Garcia-Arumi Elena, Andreu Antoni L, Arenas Joaquín
Abstract excerpt
We report on a Spanish family with myophosphorylase (EC 2.4.1.1) deficiency (McArdle's disease). The proband and his symptomatic sister were compound heterozygous for two novel mutations: a T-to-G transversion in exon 14 (c1722 T>G) that changes a tyrosine to a stop codon (Y573X), and a G-to-A transition in exon 15 (c1827 G>A) that disrupts the consensus signal at the donor splicing site. These findings further...
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