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.
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收藏
页码：211 / 221
页数：11
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