中国全科医学2017，Vol.20Issue(12)：1511-1515,5.DOI:10.3969/j.issn.1007-9572.2017.12.020
以"癫痫发作"起病的MELAS综合征临床特点分析
Clinical Characteristics of MELAS Syndrome with the Onset of Epilepsy
摘要
Abstract
Mitochondrial encephalomyopathy,lactic acidosis,and stroke-like episodes(MELAS)syndrome is a kind of inherited metabolic diseases with strong heterogeneity. Early-onset MELAS syndrome is often misdiagnosed due to the complicated clinical manifestations and epileptic seizure as one of the common initial symptoms. In order to provide a reference for the diagnosis of the disease in the early stage,we retrospectively analyzed the clinical data of seven MELAS syndrome patients with the onset of epilepsy,whose muscle-biopsy specimens were found with ragged red fibers and genes were detected with the mtDNA A3243G site mutation.关键词
MELAS综合征/癫痫/肌肉活检/mtDNAA3243G位点Key words
MELASsyndrome/Epilepsy/Musclebiopsy/mtDNAA3243Gsite分类
医药卫生引用本文复制引用
王艳丽,孔庆霞..以"癫痫发作"起病的MELAS综合征临床特点分析[J].中国全科医学,2017,20(12):1511-1515,5.基金项目
国家自然科学基金面上项目(81371423) （81371423）
