A missense mutation W797R in the myophos
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Juan C. Rubio; Miguel A. Martín; Yolanda Campos; Raffaella Auciello; Ana Cabello
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Article
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2000
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John Wiley and Sons
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English
⚖ 116 KB
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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