Article
SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.
Gene - 20 Oct 2018
Li Yuanyuan, Wen Shumeng, Li Dongxiao, Xie Jie, Wei Xiujuan, Li Xiyuan, Liu Yi, Fang Hezhi, Yang Yanling, Lyu Jianxin
Abstract excerpt
SURF1 is an assembly factor of mitochondrial complex IV, and its mutations are the primary cause of Leigh syndrome in infants. To date, over 100 SURF1 mutations have been reported worldwide, but the spectrum of the SURF1 mutations in China remains unclear. Here, using next-generation sequencing targeting mitochondrial protein-coding sequences, we sequenced 178 patients suspected to have mitochondrial diseases....
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