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  • Title: Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.
    Author: Gámez J, Rubio JC, Martín MA, Fernández-Cadenas I, Garcia-Arumi E, Andreu AL, Arenas J.
    Journal: Muscle Nerve; 2003 Sep; 28(3):380-2. PubMed ID: 12929201.
    Abstract:
    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 expand knowledge of the genetic bases of muscle glycogen phosphorylase deficiency.
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