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A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease

✍ Scribed by Juan C. Rubio; Miguel A. Martín; Yolanda Campos; Raffaella Auciello; Ana Cabello; Joaquín Arenas

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
116 KB
Volume
23
Category
Article
ISSN
0148-639X

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✦ Synopsis

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 protein. The lack of enzyme activity in the proband's muscle is consistent with a crucial role of the aa 797 in the normal function of the PYGM protein. Our data further expand the genetic heterogeneity in patients with McArdle's disease.

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