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Updated: Jul 18, 2025

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在AIFM1中的一个错误变体导致了线粒体功能障碍和对利博弗拉缺乏症的不耐受

Ying Zhao1, Yan Lin1, Bin Wang1

  • 1Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong, China.

Neuromolecular medicine
|August 21, 2023
PubMed
概括

一种新的AIFM1基因变异导致线粒体功能障碍和疾病. рибофлавин治疗在患者细胞中部分恢复了AIFM1蛋白水平和线粒体功能,这表明对这种罕见的遗传疾病有潜在的治疗益处.

关键词:
一个AIFM1一个AIFM1.诱导亡因子诱导因子过敏症 过敏症 过敏症 过敏症线粒体疾病是线粒体疾病.利博弗拉维因是一种黄素.

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