Delineating the genetic landscape of Charcot–Marie–tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants
Our findings provided robust data regarding the genetic distribution of CMT in Türkiye, which may pave the path for building population-specific diagnostic gene panels. Rare autosomal recessive subtypes were relatively frequent in our cohort. By analyzing genotype-phenotype correlations, our data may provide clinical clues for clinicians.
Authors
- Arman Çakar (ORCID: https://orcid.org/0000-0002-8129-4172)
- Ayşe Candayan (ORCID: https://orcid.org/0000-0002-3528-2293)
- Hacer Durmuş (ORCID: https://orcid.org/0000-0002-6426-676X)
- Zehra Oya Uyguner (ORCID: https://orcid.org/0000-0002-2035-4338)
- Serdar Ceylaner (ORCID: https://orcid.org/0000-0003-2786-1911)
- Esra Battaloğlu (ORCID: https://orcid.org/0000-0003-3131-6123)
- Yeşim Parman (ORCID: https://orcid.org/0000-0001-9793-6590)
- Gulandam Bagırova
Institutions
- University of Antwerp (BE)
- VIB-UAntwerp Center for Molecular Neurology (BE)
- Intergen (Turkey) (TR)
- Boğaziçi University (TR)
- Istanbul University (TR)
Publication Details
- Journal
- European Journal of Neurology
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1111/ene.16572
- Citations
- 2
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Türkiye Bilimsel ve Teknolojik Araştırma Kurumu
- Boğaziçi Üniversitesi
- Horizon 2020 Framework Programme