Novel Dominant Splicing Variant in <i>MPZ</i> Associated With Unusual Charcot–Marie–Tooth Disease
This case expends the genotype-phenotype correlations of MPZ-related Charcot-Marie-Tooth diseases, associating atypical mild phenotype with a rare splice dominant variant, and provides new insights into MPZ haploinsufficiency and pathogenic mechanisms.
Authors
- Julien Fauré (ORCID: https://orcid.org/0000-0002-3660-9809)
- Anthony Maino (ORCID: https://orcid.org/0009-0000-1012-8292)
- G. Hardy (ORCID: https://orcid.org/0009-0002-2678-3528)
- Nathalie Roux‐Buisson
- John Rendu (ORCID: https://orcid.org/0000-0002-0377-0807)
- Florence Hazane‐Puch (ORCID: https://orcid.org/0000-0003-2770-289X)
- Philippe Petiot
Institutions
- Inserm (FR)
- Centre Hospitalier Universitaire de Grenoble (FR)
- Hôpital Pierre Wertheimer (FR)
- Grenoble Institute of Neurosciences (FR)
- Laboratoire de Génétique Cellulaire (FR)
- Université Grenoble Alpes (FR)
Publication Details
- Journal
- Journal of the Peripheral Nervous System
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1111/jns.70085
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Kagoshima University