Article
Novel homozygous mutation in the FBXL4 gene is associated with mitochondria DNA depletion syndrome-13.
Journal of the neurological sciences - 15 Sept 2020
Wang Simei, Lin Longlong, Wang Yilin, Wang Anqi, Liu Zhao, Wu Shengnan, Lan Xiaoping, Jia Jia, Zhang Yuanfeng, Yuan Fang, Wang Chunmei, Luo Xiaona, Sun Xiaomin, Avula Sreenivas K, Tolaymat Abdullah, Liu Changsheng, Ren Yun, Chen Yucai
Abstract excerpt
BACKGROUND: Mitochondrial DNA depletion syndrome-13 (MTDPS13) is caused by mutations in FBXL4 (F-box and leucine-rich repeat protein 4), a nuclear gene encoding an F-box protein that plays a role in maintaining mtDNA integrity and stability. METHODS: We identified a novel homozygous FBXL4 gene mutation, c.993dupA (p.L332Tfs*3), in a 1-year-old girl of Han Chinese descent. We performed three-dimensional protein...
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