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Article

Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 19 Nov 2003

Abrams Charles K, Freidin Mona, Bukauskas Feliksas, Dobrenis Kostantin, Bargiello Thaddeus A, Verselis Vytas K, Bennett Michael V L, Chen Lei, Sahenk Zarife

Abstract excerpt

X-linked Charcot-Marie-Tooth disease is an inherited peripheral neuropathy arising in patients with mutations in the gene encoding connexin 32 (Cx32). Cx32 is expressed at the paranodes and Schmidt-Lantermann incisures of myelinating Schwann cells in which it is believed to form a reflexive pathway between the abaxonal and adaxonal cytoplasmic domains. Patients with the Val181Ala (V181A) mutation have a severe...

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PMID: 14627639
PMCID: PMC4513672

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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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