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Article

Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation.

European journal of neurology - 1 Oct 2008

Mazzeo A, Di Leo R, Toscano A, Muglia M, Patitucci A, Messina C, Vita G

Abstract excerpt

BACKGROUND: X-linked Charcot-Marie-Tooth disease (CMTX), caused by mutations in the gene encoding connexin32, is the second most common form of inherited demyelinating neuropathy, next to CMT 1A, and accounts for 10-20% of all hereditary demyelinating neuropathies. AIMS OF THE STUDY: To describe clinical and electrophysiological data of an Italian family carrying a novel mutation in the Cx32 gene. PATIENTS AND...

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Identifiers

PMID: 18717720
DOI: 10.1111/j.1468-1331.2008.02263.x

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

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