IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.

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第一作者： Qiyu,Dong

第一单位： Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China.

作者： Qiyu,Dong ^[1] ; Xiaojie,Yin ^[1] ; Shuanglong,Fan ^[1] ; Sheng,Zhong ^[1] ; Wenxin,Yang ^[1] ; Keer,Chen ^[1] ; Qian,Wang ^[1] ; Xue,Ma ^[2] ; Refiloe Laurentinah,Mahlatsi ^[1] ; Yanling,Yang ^[2] ; Jianxin,Lyu ^[3] ; Hezhi,Fang ^[4] ; Ya,Wang ^[5]

作者单位： Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China. ^[1] Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China. ^[2] Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China.;Laboratory Medicine Center, Department of Clinical Laboratory, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, 310053, China. ^[3] Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China. fangh@wmu.edu.cn. ^[4] Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China. yawang@wmu.edu.cn. ^[5]

关键词 IARS2 Leigh syndrome Mitochondrial disease OXPHOS