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McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient

✍ Scribed by Juan C Rubio; Miguel A Martı́n; Alberto Garcı́a; Yolanda Campos; Ana Cabello; José M Culebras; Joaquı́n Arenas


Book ID
117671017
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
52 KB
Volume
9
Category
Article
ISSN
0960-8966

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A missense mutation W797R in the myophos
✍ Juan C. Rubio; Miguel A. Martín; Yolanda Campos; Raffaella Auciello; Ana Cabello 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 116 KB 👁 2 views

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