A novel SBF1 missense mutation causes autosomal dominant Charcot–Marie–Tooth disease type 4B3
Pathogenicity and protein predictions suggest that the myotubularin-related protein 5 (MTMR5), encoded by the mutated <i>SBF1</i>, may possess an altered structure, resulting in disease. These findings will help expand the phenotypic and genetic spectrum of CMT4B3.
Authors
- H. Liu
- Zhanli Xie (ORCID: https://orcid.org/0000-0001-5047-7737)
- Li Yu (ORCID: https://orcid.org/0000-0002-3757-0758)
- Jing Dong (ORCID: https://orcid.org/0000-0002-3684-2432)
Institutions
- Wuhan University (CN)
- Zhongnan Hospital of Wuhan University (CN)
Publication Details
- Journal
- Frontiers in Neurology
- Published
- 2024-11-22
- DOI
- https://doi.org/10.3389/fneur.2024.1495711
- Citations
- 1
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.27
Funders
- National Natural Science Foundation of China
- Zhongnan Hospital of Wuhan University