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  • Title: A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease.
    Author: Deschauer M, Opalka JR, Lindner A, Zierz S.
    Journal: Mol Genet Metab; 2001 Dec; 74(4):489-91. PubMed ID: 11749054.
    Abstract:
    We identified a novel nonsense mutation in the myophoshorylase gene in a patient of Italian origin with McArdle disease. This homozygous C-to-T transition (805C > T) results in the replacement of a arginine at amino acid position 269 with a stop codon (R269X). Our data further expand the genetic heterogeneity in patients with McArdle disease.
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