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Article

Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment.

Neurology - 24 Sept 2002

Kawakami Hideshi, Inoue Ken, Sakakihara Ichiro, Nakamura Shigenobu

Abstract excerpt

The authors describe a 16-year-old boy with severe muscular atrophy and signs of peripheral neuropathy compatible with Charcot-Marie-Tooth disease. Abnormalities in the cerebellum and central somatosensory pathway were also noted. Gene analysis revealed a novel gross insertion mutation in exon 2 of the connexin32 gene along with a 21-base pair duplication resulting in a seven-amino acid insertion in the first...

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PMID: 12297581
DOI: 10.1212/wnl.59.6.923

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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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