Novel pathogenic <scp>mtDNA</scp> variants in Chinese children with neurological mitochondrial disorders
In summary, we revisited the mtDNA mutation spectrum in Chinese children with mitochondrial disorders, and identified five novel pathogenic mtDNA variants with functional verification that are related to neurological mitochondrial disorders in children.
Authors
- Zhimei Liu (ORCID: https://orcid.org/0000-0003-0393-7598)
- Hezhi Fang (ORCID: https://orcid.org/0000-0003-0956-3160)
- Keer Chen
- Lijun Shen (ORCID: https://orcid.org/0000-0002-7518-2932)
- Xin Duan (ORCID: https://orcid.org/0000-0001-9834-4941)
- Changhong Ren (ORCID: https://orcid.org/0000-0002-7765-2969)
- Chaolong Xu (ORCID: https://orcid.org/0009-0006-1460-1933)
- Suzhou Zhao
- Mingzhao Wang (ORCID: https://orcid.org/0000-0001-8277-4963)
- Ya Wang (ORCID: https://orcid.org/0000-0001-6229-4495)
- Wenxin Yang (ORCID: https://orcid.org/0009-0006-9141-367X)
- Fang Fang (ORCID: https://orcid.org/0000-0001-6481-7034)
- Ying Zou
- Yijun Jin
- Lifang Dai (ORCID: https://orcid.org/0000-0003-1549-3496)
- K M Pan
Institutions
- Capital Medical University (CN)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Wenzhou Medical University (CN)
- First Affiliated Hospital of Wenzhou Medical University (CN)
- Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University (CN)
- Beijing Children’s Hospital (CN)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2025-02-06
- DOI
- https://doi.org/10.1002/acn3.52315
- Citations
- 1
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- National Natural Science Foundation of China
- Wenzhou Municipal Science and Technology Bureau
- Key Discipline of Zhejiang Province in Medical Technology
- Young Scientists Fund