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Updated: Jan 16, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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一种新型的同卵性COX6A1变体导致轴突Charcot-marie-tooth疾病,发育延迟和线粒体功能障碍

Qianyun Cai1,2,3, Haijiao Wang1,2,3, Rong Luo1,2,3

  • 1Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

Journal of human genetics
|October 3, 2025
PubMed
概括

一种新的COX6A1基因变异在儿童中引起严重的线粒体功能障碍,发育迟缓和夏科特-玛丽-图斯病. 这种止损突变突出了线粒体疾病的新疾病机制.

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