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Article

Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.

BMC neurology - 9 Jul 2007

Braathen Geir J, Sand Jette C, Bukholm Geir, Russell Michael B

Abstract excerpt

BACKGROUND: X-linked Charcot-Marie Tooth (CMT) is caused by mutations in the connexin32 gene that encodes a polypeptide which is arranged in hexameric array and form gap junctions. METHODS: We describe two novel mutations in the connexin32 gene in two Norwegian families. RESULTS: Family 1 had a c.225delG (R75fsX83) which causes a frameshift and premature stop codon at position 247. This probably results in a...

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Identifiers

PMID: 17620124
DOI: 10.1186/1471-2377-7-19
PMCID: PMC1999495

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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