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

被引：0

作者：

Rubio, JC ^{[1
]}

Martín, MA ^{[1
]}

Campos, Y ^{[1
]}

Auciello, R ^{[1
]}

Cabello, A ^{[1
]}

Arenas, J ^{[1
]}

机构：

[1] Hosp 12 Octubre, Ctr Invest, Madrid 28041, Spain

来源：

MUSCLE & NERVE | 2000年 / 23卷 / 01期

关键词：

molecular analysis; McArdle's disease; myophosphorylase; exercise intolerance;

D O I：

10.1002/(SICI)1097-4598(200001)23:1<129::AID-MUS20>3.0.CO;2-F

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (C) 2000 John Wiley & Sons, Inc.

引用

页码：129 / 131

页数：3

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