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MELAS综合征患者尿液细胞中线粒体基因突变的研究进展 被引量：1

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摘要 线粒体脑肌病伴高乳酸血症和卒中样发作（MELAS）综合征是由于线粒体结构或功能异常导致呼吸链乃至整个能量代谢过程紊乱的临床异源性多系统疾病，以脑组织和肌肉受累最严重。本病系母系遗传，亦见散发，临床表现复杂多变，误诊率极高。
作者 吴海荣 马祎楠 戚豫 刘红刚
机构地区 首都医科大学附属北京同仁医院病理科 北京大学第一医院中心实验室
出处 《中华医学杂志》 CAS CSCD 北大核心 2012年第38期2730-2732,共3页 National Medical Journal of China
关键词 MELAS综合征 线粒体基因突变 尿液细胞 患者 线粒体脑肌病 临床表现 多系统疾病 线粒体结构
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27

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二级参考文献31

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中华医学杂志
2012年 第38期

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