Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing
This is the first report of a family affected by Leigh syndrome associated with mutations in the Ndufa3 gene. Our analyses of clinical symptoms, radiological scans, and genetic investigations broaden our understanding of Ndufa3 gene mutations and their role in the development of Leigh syndrome.
Authors
- B Li
- Wenjuan Wu (ORCID: https://orcid.org/0000-0002-5161-3179)
- Suzhen Sun (ORCID: https://orcid.org/0000-0001-8075-9137)
- Jennifer J. Hu (ORCID: https://orcid.org/0000-0002-0021-5699)
- Chong Liu (ORCID: https://orcid.org/0000-0003-2479-3001)
- Bao-Guang Li
- Xin Wang (ORCID: https://orcid.org/0000-0001-6998-7040)
- Yakun Du
- Lihui Wang (ORCID: https://orcid.org/0000-0003-4038-6473)
Institutions
- Hebei Medical University (CN)
- Hospital of Hebei Province (CN)
- Hebei Meteorological Bureau (CN)
Publication Details
- Journal
- Neurogenetics
- Published
- 2024-11-28
- DOI
- https://doi.org/10.1007/s10048-024-00782-8
- Citations
- 2
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.47