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Article

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.

Neurology - 1 Apr 1998

Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, Gugenheim M, Routon M C, Léger J M, Agid Y, Brice A, Bouche P

Abstract excerpt

OBJECTIVE: To relate X-linked Charcot-Marie-Tooth disease (CMTX) phenotypes to gender and type of neuropathy by the study of a large series of CMTX patients with proven Cx32 point mutations. BACKGROUND: CMTX is an X-linked form of Charcot-Marie-Tooth disease, caused by mutations in the connexin 3...

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Identifiers

PMID: 9566397
DOI: 10.1212/wnl.50.4.1074

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9566397-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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