Article
Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency.
Human mutation - 1 May 2020
Wei Xiujuan, Du Miaomiao, Li Dongxiao, Wen Shumeng, Xie Jie, Li Yuanyuan, Chen Aolong, Zhang Kun, Xu Pu, Jia Manli, Wen Chaowei, Zhou Huaibin, Lyu Jianxin, Yang Yanling, Fang Hezhi
Abstract excerpt
Mutations in FASTKD2, a mitochondrial RNA binding protein, have been associated with mitochondrial encephalomyopathy with isolated complex IV deficiency. However, deficiencies related to other oxidative phosphorylation system (OXPHOS) complexes have not been reported. Here, we identified three novel FASTKD2 mutations, c.808_809insTTTCAGTTTTG, homoplasmic mutation c.868C>T, and heteroplasmic mutation...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.