HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration

Journal of Genetics and Genomics - Tập 48 - Trang 727-736 - 2021
Yu Sun1, Xiujuan Wei2, Fang Fang3, Yiping Shen4,5,6, Haiyan Wei7, Jiuwei Li3, Xianglai Ye2, Yongkun Zhan1, Xiantao Ye1, Xiaomin Liu1, Wei Yang7, Yuhua Li8, Xiangju Geng9, Xuelin Huang4, Yiyan Ruan4, Zailong Qin4, Shang Yi4, Jianxin Lyu2,10, Hezhi Fang2, Yongguo Yu1,11
1Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China
2Key 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 325035, China
3Department of Neurology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China
4The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Guangxi Birth Defects Prevention and Control Institute, Nanning 530000, China
5Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China
6Boston Children’s Hospital, Harvard Medical School, Boston, MA, 02115, USA
7Department of Endocrinologic and Inherited Metabolic, Henan Childen’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou 450018, China
8Department of Radiology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China
9Department of Rehabilitation, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou 450018, China
10Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital of Hangzhou Medical College, Hangzhou 310014, China
11Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai 200092, China

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