Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene

被引：74

作者：

Taylor, RW

Singh-Kler, R

Hayes, CM

Smith, PEM

Turnbull, DM

机构：

[1] Univ Newcastle Upon Tyne, Sch Med, Dept Neurol, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[2] Univ Wales Hosp, Dept Neurol, Cardiff CF4 4XW, S Glam, Wales

来源：

ANNALS OF NEUROLOGY | 2001年 / 50卷 / 01期

关键词：

D O I：

10.1002/ana.1084

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe a 42-year-old man who presented with a progressive history of epilepsy, stroke-like episodes, bilateral optic atrophy, and cognitive decline. Investigation of his muscle biopsy revealed a specific defect in complex I activity. Subsequent analysis of the mitochondria genome identified a novel heteroplasmic T10191C mutation in the ND3 gene. The mutation was present at Lower levels in blood from the patient and unaffected maternal relatives and is the first pathogenic mitochondria DNA mutation in the ND3 gene to be described.

引用

页码：104 / 107

页数：4

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