Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.

doi:10.1111/ene.16523

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Article

Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.

European journal of neurology - 1 Jan 2025

Barbat du Closel Luce, Bonello-Palot Nathalie, Delmont Emilien, Péréon Yann, Echaniz-Laguna Andoni, Camdessanché Jean Philippe, Pakleza Aleksandra Nadaj, Chanson Jean-Baptiste, Frachet Simon, Magy Laurent, Cassereau Julien, Cintas Pascal, Choumert Ariane, Devic Perrine, Louis Sarah Léonard, Tard Céline, Solé Guilhem, Salort-Campana Emmanuelle, Bouhour Françoise, Latour Philippe, Stojkovic Tanya, Attarian Shahram

Abstract excerpt

BACKGROUND AND PURPOSE: X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) ranks as the second most prevalent hereditary neuropathy and, currently, has no definitive cure. Emerging preclinical trials offer hope for potential clinical studies in the near future. While it is widely accepted that experimental groups in these trials should be balanced for age and gender, there is a current shortfall in data...

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PMID: 39569692
DOI: 10.1111/ene.16523
PMCID: PMC11622270

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