Do carriers of PYGM mutations have symptoms of McArdle disease?

被引：20

作者：

Andersen, Susanne Tvede

Duno, Morten

Schwartz, Marianne

Vissing, John ^{[1
]}

机构：

[1] Univ Copenhagen, Natl Hosp 2082, Dept Neurol, Neuromuscular Res Unit, DK-2100 Copenhagen, Denmark

[2] Univ Copenhagen, Natl Hosp, Muscle Res Ctr, DK-2100 Copenhagen, Denmark

[3] Univ Copenhagen, Natl Hosp, Dept Clin Genet, DK-2100 Copenhagen, Denmark

来源：

NEUROLOGY | 2006年 / 67卷 / 04期

关键词：

D O I：

10.1212/01.wnl.0000230154.79933.d7

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors investigated whether carriers of single myophosphorylase gene (PYGM) mutations have symptoms of McArdle disease. They studied the oxidative capacity and lactate responses to maximal cycle exercise in eight patients with McArdle disease, seven single PYGM mutation carriers, and 11 healthy subjects. Heterozygotes had maximal oxidative capacity and peak lactate responses identical to control subjects. Thus, carriers of single PYGM mutations are not prone to develop symptoms of McArdle disease.

引用

页码：716 / 718

页数：3

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