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Article

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.

Neurology - 1 Oct 1995

Bone L J, Dahl N, Lensch M W, Chance P F, Kelly T, Le Guern E, Magi S, Parry G, Shapiro H, Wang S

Abstract excerpt

Analysis of the connexin32 gene in patients with X-linked Charcot-Marie-Tooth disease shows mutations distributed throughout the molecule, with all domains affected except the fourth transmembrane domain and the distal carboxy terminus. Sequence analysis of DNA from 19 unrelated patients detected six novel mutations and three previously reported mutations. Identification of additional mutations extends the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 7477983
DOI: 10.1212/wnl.45.10.1863

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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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