Phenotype–genotype correlation in X‐linked Charcot‐Marie‐Tooth disease: A French cohort study
This study confirms the presence of a correlation between the mutated protein domain and the clinical phenotype. Patients with a variant in the transmembrane domains demonstrated a more severe clinical and electrophysiological profile. Consequently, the genotype could play a prognostic role in addition to its diagnostic role, and it will be essential to consider this in future clinical trials.
Authors
- Françoise Bouhour (ORCID: https://orcid.org/0000-0002-4005-1537)
- Jean‐Philippe Camdessanché (ORCID: https://orcid.org/0000-0002-5282-6707)
- Jean‐Baptiste Chanson (ORCID: https://orcid.org/0000-0003-4221-3840)
- Tanya Stojkovic (ORCID: https://orcid.org/0000-0002-4054-2838)
- Sarah Louis
- Guilhem Solé (ORCID: https://orcid.org/0000-0001-9599-6573)
- Luce Barbat du Closel (ORCID: https://orcid.org/0000-0002-4422-1425)
- Andoni Echaniz‐Laguna (ORCID: https://orcid.org/0000-0003-1012-9783)
- Perrine Devic (ORCID: https://orcid.org/0000-0002-9010-1723)
- Emmanuelle Salort‐Campana (ORCID: https://orcid.org/0000-0002-1846-3017)
- Julien Cassereau (ORCID: https://orcid.org/0000-0002-1656-552X)
- Yann Péréon (ORCID: https://orcid.org/0000-0002-0090-3571)
- Céline Tard (ORCID: https://orcid.org/0000-0002-6654-8090)
- Philippe Latour (ORCID: https://orcid.org/0000-0002-2370-1331)
- Émilien Delmont (ORCID: https://orcid.org/0000-0002-5591-2774)
- Simon Frachet (ORCID: https://orcid.org/0000-0002-4685-0786)
- Laurent Magy (ORCID: https://orcid.org/0000-0003-1784-2901)
- Nathalie Bonello‐Palot (ORCID: https://orcid.org/0000-0002-8657-1271)
- Shahram Attarian (ORCID: https://orcid.org/0000-0002-7211-4694)
- Pascal Cintas (ORCID: https://orcid.org/0000-0002-0242-4849)
- Aleksandra Nadaj Pakleza
Institutions
- Université Claude Bernard Lyon 1 (FR)
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Aix-Marseille Université (FR)
- Université Paris-Saclay (FR)
- Centre Hospitalier Universitaire de Bordeaux (FR)
- Centre Hospitalier Universitaire de Lille (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hospices Civils de Lyon (FR)
- Hôpital Pellegrin (FR)
- Institut de Myologie (FR)
- Centre Hospitalier Universitaire de Limoges (FR)
- Institut NeuroMyoGène (FR)
- Peuplements végétaux et bioagresseurs en milieu tropical (RE)
- Hôpital Purpan (FR)
- Hôpitaux Universitaires de Strasbourg (FR)
- Centre Hospitalier Universitaire de Saint-Étienne (FR)
- Bicêtre Hospital (FR)
- Université d'Angers (FR)
- Université Lille Nord de France (FR)
Publication Details
- Journal
- European Journal of Neurology
- Published
- 2024-11-21
- DOI
- https://doi.org/10.1111/ene.16523
- Citations
- 4
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.07