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Mitochondrial DNA point mutation in the COI gene in a patient with McArdle's disease

✍ Scribed by Isabel Aguilera; José-Raúl Garcı́a-Lozano; Alfredo Muñoz; Joaquı́n Arenas; Yolanda Campos; Isidoro Chinchón; Antonio-Núñez Roldán; Juan Bautista


Book ID
119465491
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
185 KB
Volume
192
Category
Article
ISSN
0022-510X

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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