Novel homozygous mutation in the FBXL4 gene is associated with mitochondria DNA depletion syndrome-13

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.

Source: Journal of the Neurological Sciences - June 6, 2020 Category: Neurology Authors: Simei Wang, Longlong Lin, Yilin Wang, Anqi Wang, Zhao Liu, Shengnan Wu, Xiaoping Lan, Jia Jia, Yuanfeng Zhang, Fang Yuan, Chunmei Wang, Xiaona Luo, Xiaomin Sun, Sreenivas K. Avula, Abdullah Tolaymat, Changsheng Liu, Ren Yun, Yucai Chen Source Type: research