中国全科医学2011,Vol.14Issue(12):1391-1393,3.
线粒体脑肌病伴高乳酸血症及卒中样发作综合征的病因及病机研究进展
Research Progress of Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-Like Episodes in Etiopathogenisis and Pathogenesis
陈燕 1曹秉振2
作者信息
- 1. 121001辽宁省锦州市,辽宁医学院
- 2. 济南军区总医院神经内科
- 折叠
摘要
Abstract
Mitochondrial encephalopathy with lactic acidosis and stroke - like episodes ( MELAS syndrome ) is the most common form of mitochondrial dieases and coused by an A to G transition mutation at position 3243 of the mitochondrial genome. The disease is maternal inheritance , usually involved central nerve system and skeletal muscle. The most frequent clinical manifestations were headache, fatigue or movement intolerance, mental impairment, stroke - like episodes and lactic acidosis.In recent years the pathogenesis, genetic mutation characteristics, pathology, clinical manifestation of MELAS svndrome has made great progress. This review emphatically discusses the etiology and pathogenesis of the disease.关键词
MELAS综合征/发病机制/突变分类
医药卫生引用本文复制引用
陈燕,曹秉振..线粒体脑肌病伴高乳酸血症及卒中样发作综合征的病因及病机研究进展[J].中国全科医学,2011,14(12):1391-1393,3.