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病例报告:晚期发病的MELAS综合征与mtDNA 5783G>通过尿液沉积物遗传测试诊断的一种突变

Hao Cai1,2,3,4, Li-Min Li5, Miao Zhang1,2,3,4

  • 1Department of Neurology, Tianjin Huanhu Hospital, Tianjin, China.

Frontiers in genetics
|June 17, 2024
PubMed
概括

线粒体脑筋疲劳症,乳酸性酸和类似中风的情节 (MELAS) 的诊断可能具有挑战性. 尿液基因检测发现了一种新的突变,在血液检测呈阴性结果时有助于诊断.

关键词:
梅拉斯 (MELAS) 是一种葡萄酒.在 MT-TC 中使用.晚期开始的 晚期开始的m.5783G>A. 这是一个很好的例子.尿液沉积物的尿液沉积物

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