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

ABSTRACT:

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 regarding phenotype-genotype correlations. Our aim was to provide a more detailed understanding of these correlations to facilitate the formation of well-matched patient groups in upcoming clinical trials.

Methods

We conducted a retrospective evaluation of CMTX1 patients from 13 designated reference centers in France. Data on genetics, clinical features, and nerve conduction

SUBMITTER: Barbat du Closel L 

PROVIDER: S-EPMC11622270 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature