Biallelic FOXRED1 mutations cause infantile mitochondrial encephalopathy with complex I disassembly and basal ganglia degeneration
Year: 2025
Type: article
Language: en
Topic: Mitochondrial Function and Pathology
Authors and affiliations:
raw_author_name: Cunhui Pan
raw_affiliation_strings: Department of Pediatrics, Clinical Research Center of Children's Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha 410008, China
raw_author_name: Ruowei Zhu
raw_affiliation_strings: 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, China
raw_author_name: Xi Huang
raw_affiliation_strings: Department of Pediatrics, Clinical Research Center of Children's Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha 410008, China
raw_author_name: Haolin Duan
raw_affiliation_strings: Department of Pediatrics, Clinical Research Center of Children's Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha 410008, China
raw_author_name: Tenghui Wu
raw_affiliation_strings: Department of Pediatrics, Clinical Research Center of Children's Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha 410008, China
raw_author_name: Xiaole Wang
raw_affiliation_strings: Department of Pediatrics, Clinical Research Center of Children's Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha 410008, China
raw_author_name: Ying Ding
raw_affiliation_strings: Department of Neonatology, Xiangya Hospital, Central South University, Changsha 410008, China
raw_author_name: Chen Chen
raw_affiliation_strings: Department of Pediatrics, Clinical Research Center of Children's Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha 410008, China
raw_author_name: Fang He
raw_affiliation_strings: Department of Pediatrics, Clinical Research Center of Children's Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha 410008, China
raw_author_name: Jing Peng
raw_affiliation_strings: Department of Pediatrics, Clinical Research Center of Children's Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha 410008, China
raw_author_name: Fei Yin
raw_affiliation_strings: Department of Pediatrics, Clinical Research Center of Children's Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha 410008, China
raw_author_name: Xiaoting Lou
raw_affiliation_strings: 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, China; Laboratory Medicine Center, Department of Genetic and Genomic Medicine, Zheiiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China; School of Laboratory Medicine and Bioengineering, Hangzhou Medica College, Hnagzhou, China
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, China; Laboratory Medicine Center, Department of Genetic and Genomic Medicine, Zheiiang Provincial, People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China; School of Laboratory Medicine and Bioengineering, Hangzhou Medica College, Hnagzhou, China
raw_author_name: Li Yang
raw_affiliation_strings: Department of Pediatrics, Clinical Research Center of Children's Neurodevelopmental Disabilities of Hunan Province, Xiangya Hospital, Central South University, Changsha 410008, China. Electronic address: yangli525@csu.edu.cn