Article
Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.
European journal of neurology - 1 Oct 2023
Barbat du Closel Luce, Bonello-Palot Nathalie, Péréon Yann, Echaniz-Laguna Andoni, Camdessanche Jean Philippe, Nadaj-Pakleza Aleksandra, Chanson Jean-Baptiste, Frachet Simon, Magy Laurent, Cassereau Julien, Cintas Pascal, Choumert Ariane, Devic Perrine, Leonard Louis Sarah, Gravier Dumonceau Robinson, Delmont Emilien, Salort-Campana Emmanuelle, Bouhour Françoise, Latour Philippe, Stojkovic Tanya, Attarian Shahram
Abstract excerpt
BACKGROUND: X-Linked Charcot-Marie-Tooth disease type 1 (CMTX1) is characterized by gender differences in clinical severity. Women are usually clinically affected later and less severely than men. However, their clinical presentation appears to be heterogenous. Our aim was to extend the phenotypic description in a large series of women with CMTX1. METHODS: We retrospectively evaluated 263 patients with CMTX1 from...
Topics
Join the communities discussing this publication.