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Updated: Jan 12, 2026

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一个与POLG相关的线粒体DNA维护缺陷的案例

Junyi Wang1, Changhong Tan1, Fen Deng1

  • 1Department of Neurology, The Second Affiliated Hospital of Chongqing Medical University, Chongqing, 400010, China.

Acta neurologica Belgica
|October 31, 2025
PubMed
概括

线粒体DNA枯竭综合征 (MDS) 是一种罕见的遗传疾病. 一种新型的同卵性POLG突变导致了渐进的眼睛症状,突出了对这些线粒体DNA维护缺陷的基因测试的重要性.

关键词:
DNA聚合酶是一种DNA聚合酶.线粒体DNA (mtDNA) 的维护缺陷渐进的外部眼睛 (PEO)这种基因是POLG基因.

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