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Article

Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations

1 Dec 1998

Abstract excerpt

In a recent issue of this Journal 1there was a report of two cases of multiple sclerosis with duplicated CMT1A. Here we present four additional patients with Charcot-Marie-Tooth disease with CNS involvement as shown by electrophysiological studies and the presence of myelin lesions in brain MRI. In our patients point mutations were identified in GJB1, a gene coding for connexin 32 (GenBank acc number 117688). We...

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Identifiers

PMID: 9854984
DOI: 10.1136/jnnp.65.6.947a

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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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