Functional identification of two variants in unrelated Chinese patients with DNM1L-related mitochondrial disorders
The present findings suggest that these variants may contribute to DRP1 deficiency, potentially triggering a range of DNM1L-related disease phenotypes. This study serves to expand the spectrum of variants associated with DNM1L-related disorders.
Authors
- Zhenkun Zhang (ORCID: https://orcid.org/0000-0002-3480-2381)
- Mengjun Xiao
- Zhenhua Xie
- Yaodong Zhang (ORCID: https://orcid.org/0000-0003-0014-025X)
- Zhehui Chen (ORCID: https://orcid.org/0000-0002-6139-5347)
- Qingjiong Zhang (ORCID: https://orcid.org/0000-0001-7508-848X)
- Yanling Yang (ORCID: https://orcid.org/0000-0001-8246-1756)
- Xiaofan Bie
- Xian Li (ORCID: https://orcid.org/0000-0002-1086-5396)
- Dongxiao Li (ORCID: https://orcid.org/0009-0007-7909-1898)
- Jing Liu (ORCID: https://orcid.org/0009-0008-2772-0418)
Institutions
- Peking University (CN)
- Zhengzhou Children's Hospital (CN)
- Peking University First Hospital (CN)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2025-12-12
- DOI
- https://doi.org/10.1186/s12887-025-06299-9
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China