线粒体疾病：疾病分类学的最新进展。

Mitochondrial diseases: a nosological update.

作者信息

Filosto M, Mancuso M

机构信息

Neurological Clinic, Section for Neuromuscular Diseases and Neuropathies, University Hospital Spedali Civili of Brescia, Brescia, Italy.

出版信息

Acta Neurol Scand. 2007 Apr;115(4):211-21. doi: 10.1111/j.1600-0404.2006.00777.x.

DOI:10.1111/j.1600-0404.2006.00777.x

PMID:17376118

Abstract

Mitochondrial diseases are disorders caused by impairment of the mitochondrial respiratory chain, characterized by clinical-genetic heterogeneity and frequent multisystemic involvement. It is difficult to establish a precise genotype/phenotype correlation and obtain a definitive nosology. Today's genetic classification distinguishes disorders caused by defects in the mitochondrial genome (sporadic or maternally-inherited) from disorders caused by defects in the nuclear genome (autosomally-inherited). We report an updated classification, briefly review the main clinical syndromes and describe the most recent genetic knowledge.

摘要

线粒体疾病是由线粒体呼吸链功能障碍引起的疾病，其特点是临床-遗传异质性和频繁的多系统受累。很难建立精确的基因型/表型相关性并获得确切的疾病分类学。当今的遗传分类将由线粒体基因组缺陷（散发或母系遗传）引起的疾病与由核基因组缺陷（常染色体遗传）引起的疾病区分开来。我们报告了一种更新的分类，简要回顾了主要临床综合征并描述了最新的遗传学知识。