Digenesis in Charcot–Marie–Tooth Disease: Impact of Combined Mutations in the <scp><i>MFN2</i></scp> and <scp><i>GDAP1</i></scp> Genes
The cases of digenism have a significant prevalence in CMT disease and may explain the severity of the phenotype in our patients. Multilocus variants complicate genetic counseling due to non-Mendelian inheritance. In addition, it is important to distinguish between digenism and modifier genes.
Authors
- Nathalie Martini
- Annabelle Chaussenot (ORCID: https://orcid.org/0000-0003-1602-5627)
- Angela Rita Puma (ORCID: https://orcid.org/0000-0002-4218-6128)
- Karine Nguyen (ORCID: https://orcid.org/0000-0002-6889-3891)
- Émilien Delmont (ORCID: https://orcid.org/0000-0002-5591-2774)
- Shahram Attarian (ORCID: https://orcid.org/0000-0002-7211-4694)
- Nathalie Bonello‐Palot
- Amandine Boyer
- C. Halbert
- Endrit Shumeri
- Ebrahem Mandorah
Institutions
- Université Côte d'Azur (FR)
- Centre Hospitalier Universitaire de Nice (FR)
- University of Jeddah (SA)
- Hôpital l'Archet (FR)
- Hôpital de la Timone (FR)
Publication Details
- Journal
- Journal of the Peripheral Nervous System
- Published
- 2025-06-30
- DOI
- https://doi.org/10.1111/jns.70044
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00