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  • Title: McArdle's disease: a rare frameshift mutation in exon 1 of the muscle glycogen phosphorylase gene.
    Author: Bartram C, Edwards RH, Clague J, Beynon RJ.
    Journal: Biochim Biophys Acta; 1994 Jul 18; 1226(3):341-3. PubMed ID: 8054367.
    Abstract:
    We have previously discovered a common nonsense mutation in exon 1 of the myophosphosphorylase gene in patients with McArdle's disease, but this failed to explain all cases. We now report a second mutation (G-->TT) in one patient, also in exon 1. This mutation causes a shift in the reading frame which results in the replacement of Val15 by Phe. A further 10 amino acids of mis-sense protein are synthesised before a stop codon is reached.
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