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Article

Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease.

Annals of the New York Academy of Sciences - 14 Sept 1999

Hahn A F, Bolton C F, White C M, Brown W F, Tuuha S E, Tan C C, Ainsworth P J

Abstract excerpt

We have studied the relationship between genotype, clinical phenotype, and pathology in 13 families with dominant X-linked Charcot-Marie-Tooth (CMT) neuropathy. Connexin32 (Cx32) gene mutations were spread throughout the coding region and included eight missense mutations, one 8-bp deletion/4-bp...

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PMID: 10586261

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10586261-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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