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

被引：7

作者：

Aguilera, I

García-Lozano, JR

Muñoz, A

Arenas, J

Campos, Y

Chinchón, I

Roldán, AN

Bautista, J

机构：

[1] Univ Sevilla, Hosp Virgen Rocio, Serv Inmunol, Seville 41013, Spain

[2] Univ Madrid, Hosp 12 Octubre, Ctr Invest, Madrid 3, Spain

[3] Univ Sevilla, Hosp Virgen Rocio, Serv Anat Patol, Seville 41013, Spain

[4] Univ Sevilla, Hosp Virgen Rocio, Serv Neurol, Seville 41013, Spain

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2001年 / 192卷 / 1-2期

关键词：

mitochondria; CIO gene; complex I deficiency; McArdle's disease;

D O I：

10.1016/S0022-510X(01)00634-7

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We studied a 57-year-old female patient with clinical and biochemical evidences of McArdle's disease. Her muscle biopsy also revealed signs of mitochondrial proliferation, scattered RRF, and a deficit in complex I of the respiratory chain. Molecular genetic analysis showed that the patient was heterozygous for the most common mutation at codon 49 in the myophosphorylase gene. Mitochondrial DNA analysis of muscle tissue revealed an additional G-to-A transition at nucleotide position 7444 in the cytochrome c oxidase subunit I (Col) gene. (C) 2001 Elsevier Science B.V. All rights reserved.

引用

页码：81 / 84

页数：4

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