Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

doi:10.1093/brain/awad187

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Article

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Brain : a journal of neurology - 3 Oct 2023

Record Christopher J, Skorupinska Mariola, Laura Matilde, Rossor Alexander M, Pareyson Davide, Pisciotta Chiara, Feely Shawna M E, Lloyd Thomas E, Horvath Rita, Sadjadi Reza, Herrmann David N, Li Jun, Walk David, Yum Sabrina W, Lewis Richard A, Day John, Burns Joshua, Finkel Richard S, Saporta Mario A, Ramchandren Sindhu, Weiss Michael D, Acsadi Gyula, Fridman Vera, Muntoni Francesco, Poh Roy, Polke James M, Zuchner Stephan, Shy Michael E, Scherer Steven S, Reilly Mary M

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (CMTX1) is the second most common form of CMT. It is an X-linked disorder characterized by progressive sensory and motor neuropathy with males affected more severely than females. Many reported GJB1 variants remain classified as variants of uncertain significance (VUS). In this large, international, multicentre study we prospectively collected demographic,...

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PMID: 37284795
DOI: 10.1093/brain/awad187
PMCID: PMC10545504

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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