Mitochondrial diseases: a nosological update

被引：34

作者：

Filosto, M.

Mancuso, M.

机构：

[1] Univ Hosp Spedali Civili Brescia, Neurol Clin, Sect Neuromuscular Dis & Neuropathies, Brescia, Italy

[2] Univ Pisa, Dept Neurosci, Pisa, Italy

来源：

ACTA NEUROLOGICA SCANDINAVICA | 2007年 / 115卷 / 04期

关键词：

mitochondrial diseases; mtDNA; respiratory chain defects;

D O I：

10.1111/j.1600-0404.2006.00777.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：211 / 221

页数：11

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