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以反复癫痫发作为首发表现的A3243G突变1例报告

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摘要 A3243G突变是线粒体DNA3243位点由A突变为G,受累的器官广泛,包括CNS、骨骼肌、心脏、胃肠道平滑肌和皮肤等。除此之外,症状的严重程度也存在很大差别[1]。现报道1例以反复癫痫发作为首发表现的A3243G突变患者如下。1病例患者,男,32岁,因“抽搐后言语不能,智能减退3d”于2014年4月17日入院。患者3 d前突发四肢抽搐,双眼上翻,呼之不应,数分钟后症状缓解,但出现言语不能、
出处 《临床神经病学杂志》 CAS 北大核心 2016年第1期17-17,60,共2页 Journal of Clinical Neurology
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参考文献6

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二级参考文献13

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