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Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern

✍ Scribed by Y. Wu; J.L. Weber; G.D. Vladutiu; M.A. Tarnopolsky

Book ID: 116989422
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 172 KB
Volume: 104
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2011.08.012

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We identified a novel missense mutation in the myophosphorylase gene (PYGM) in a Spanish patient with McArdle's disease. This homozygous T-to-C transition results in the replacement of a highly conserved tryptophan at amino acid position (aa) 797 with an arginine in the C-terminal domain of the PYGM