A Novel GBF1 Variant in a Charcot-Marie-Tooth Type 2: Insights from Familial Analysis
Based on autosomal dominant inheritance, as well as clinical and physiological features, a possible novel CMT2GG was diagnosed. Further research, including functional assays and in vitro studies, is necessary to confirm this variant's causal link.
Authors
- Luca Magistrelli (ORCID: https://orcid.org/0000-0002-9546-8567)
- Elena Contaldi (ORCID: https://orcid.org/0000-0002-0218-5251)
- Lucia Corrado (ORCID: https://orcid.org/0000-0002-1737-8267)
- Domizia Vecchio (ORCID: https://orcid.org/0000-0001-5920-9210)
- Rick A. A. van der Spek (ORCID: https://orcid.org/0000-0001-9983-204X)
- Cristoforo Comi (ORCID: https://orcid.org/0000-0002-6862-9468)
- Valentina Ciampana
Institutions
- Università degli Studi del Piemonte Orientale “Amedeo Avogadro” (IT)
- Azienda Ospedaliero Universitaria Maggiore della Carita (IT)
Publication Details
- Journal
- Genes
- Published
- 2024-11-29
- DOI
- https://doi.org/10.3390/genes15121556
- Citations
- 1
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.27