Genetic profile of Charcot-Marie-Tooth disease in the Saudi population: A retrospective study highlighting the role of consanguinity
This study reveals a distinct genetic profile of CMT in the Saudi population, with a higher prevalence of autosomal recessive forms of the disease compared to other populations. The findings highlight the importance of incorporating genetic testing into routine clinical practice, particularly in populations with high consanguinity rates.
Authors
- Areej Alhareeri
- Aiman S Alhazmi (ORCID: https://orcid.org/0009-0006-2174-9792)
- Mohammed S. Alqahtani (ORCID: https://orcid.org/0000-0001-7425-3578)
- Mohammed Almuqbil
- Ali S Alhawas
- Essam W Jameel
- Mutrik J. Almughni
- Faisal S Aleisa
Institutions
- King Saud bin Abdulaziz University for Health Sciences (SA)
Publication Details
- Journal
- Neurosciences
- Published
- 2025-10-01
- DOI
- https://doi.org/10.17712/nsj.2021.4.20250058
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- King Abdullah International Medical Research Center