A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease.
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Rubio JC, Martin MA, Campos Y, Auciello R, Cabello A, Arenas J
A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease.
Muscle Nerve. 2000 Jan;23(1):129-31.
- PubMed ID
- 10590419 [ View in PubMed]
- Abstract
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.