The neurology of mitochondrial DNA disease

被引：101

作者：

McFarland, R ^{[1
]}

Taylor, RW ^{[1
]}

Turnbull, DM ^{[1
]}

机构：

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

来源：

LANCET NEUROLOGY | 2002年 / 1卷 / 06期

基金：

英国惠康基金;

关键词：

D O I：

10.1016/S1474-4422(02)00159-X

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

In this era of "the gene and the genome", communication of complex genetic information to individuals and their families is becoming an increasingly common but difficult task for the clinician. This problem is particularly evident in the rapidly evolving field of mitochondrial disease: the clinician is faced with a diversity of clinical presentations and myriad mutations with, for many, only a loose relation between genotype and phenotype. The aim of this review is to familiarise the clinician with the main clinical syndromes encountered in practice, and to provide an overview of current concepts of mitochondrial genetics, including recent advances in molecular aetiology. In addition, we have included clinical guidance on the investigation and management of patients with suspected or proven mitochondrial disease based on our own experience over the past decade.

引用

页码：343 / 351

页数：9

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