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检测线粒体电子运输链酶缺陷在低异质体单一大规模mtDNA缺失综合征 (SLSMDSs) 中

Xueyang Pan1, Yue Wang2, Ning Liu2

  • 1Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, USA.

Molecular genetics and metabolism
|October 14, 2025
PubMed
概括

线粒体DNA (mtDNA) 缺失甚至在低水平上也会导致疾病,这使得诊断具有挑战性. 这项研究表明线粒体功能障碍发生在典型的致病值以下,强调需要对单个大规模mtDNA缺失综合征 (SLSMDS) 进行综合分子和功能测试.

关键词:
慢性渐进的外部眼 (CPEO)通过ETC复杂的酶定量测试.异质塑性是一种异质塑性.凯恩斯-赛尔综合征 (KSS) 是一种线粒体电子运输链 (ETC) 是指线粒体的电子运输链.单个大规模mtDNA删除综合征 (SLSMDS)删除 mtDNA 的过程.mtDNA下一代测序 (NGS) 是一种方法.

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