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A3243G突变致多脏器衰竭的MELAS综合征1例报告

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摘要 线粒体疾病是一组由线粒体DNA（mitochondrial DNA,mtD NA）和（或）核DNA（nucleusD NA,nD NA）缺陷导致氧化磷酸化受阻、继而影响ATP合成的多脏器受累综合征,主要影响耗能较多的器官如脑、心肌、骨骼肌、肾脏等[1]。根据器官受累分布不同可分为相应的综合征,其中线粒体脑肌病伴高乳酸血症和卒中样发作（mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes,MELAS）综合征是最常见的类型,大多数由线粒体A3243G突变所致。
作者 赵芬 于雪凡 苗晶 李香丽 张珍珍 江新梅
机构地区 吉林大学白求恩第一医院神经内科
出处 《中风与神经疾病杂志》 CAS CSCD 北大核心 2014年第12期1131-1132,共2页 Journal of Apoplexy and Nervous Diseases
关键词 MELAS A3243G 线粒体脑肌病 卒中样发作 ACIDOSIS 高乳酸血症 多脏器衰竭 皮质盲 DNA mitochondrial
分类号 R741 [医药卫生—神经病学与精神病学]
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参考文献6

  • 1李岩,刘楠,于雪凡.线粒体脑肌病伴乳酸酸中毒和卒中样发作(MELAS)分子病理学和发病机制研究的最新进展[J].中风与神经疾病杂志,2012,29(11):1049-1050. 被引量：2
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二级参考文献25

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共引文献6

中风与神经疾病杂志
2014年 第12期

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