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Article

Phenotypic expression of a Pro 87 to Leu mutation in the connexin 32 gene in a large Swiss family with Charcot-Marie-Tooth neuropathy.

Journal of the neurological sciences - 15 Mar 2003

Kuntzer Thierry, Dunand Murielle, Schorderet Daniel F, Vallat Jean Michel, Hahn Angelika F, Bogousslavsky Julien

Abstract excerpt

BACKGROUND: The clinical manifestations of CMTX have been well described but the natural history has not yet been studied in detail. We studied phenotype variability in a family with a Pro 87 to Leu mutation of the connexin 32 (Cx32) gene. METHODS: A total of 32 family members, of which 19 patien...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12614935
DOI: 10.1016/s0022-510x(02)00394-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12614935-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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