核DNA异常所致线粒体氧化磷酸化障碍

定义 英文原文（暂无中文）

A group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis.

别名

核DNA异常所致线粒体氧化磷酸化障碍

基本事实

遗传方式

常染色体隐性

发病年龄

各年龄段

患病率

1-9 / 100 000（Europe）

外部标识与链接