Research progress of mitochondrial disease
10.3760/cma.j.issn.1673-4408.2013.05.019
- VernacularTitle:线粒体疾病研究进展
- Author:
Yuanyuan HUANG
- Publication Type:Journal Article
- Keywords:
Mitochondrial diseases;
Mitochondrial DNA;
Diagnosis
- From:
International Journal of Pediatrics
2013;40(5):505-510
- CountryChina
- Language:Chinese
-
Abstract:
Mitochondrial disease is a set of multi-systematic and heterogeneous disease which invades in the central nervous system and muscles tissue adequately,mainly refers to the genetic defects that causes mitochondrial structure and function defect.Mitochondrial disease occupies an important position in the human genetics.At present,the research of mitochondrial disease and the related genetic mutation has become the focus in the genetics.This review is to discuss the mitochondrial disease epidemiology,molecular biology and genetics,clinical manifestations and diagnosis.
