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Article

Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient.

Journal of child neurology - 1 Jun 2010

Fusco Carlo, Frattini Daniele, Pisani Francesco, Spaggiari Federica, Ferlini Alessandra, Della Giustina Elvio

Abstract excerpt

A 14-year-old boy with an episode of acute weakness resembling acute demyelinating encephalomyelitis and polyradiculoneuritis after a febrile illness is described. Molecular analysis showed a mutation at codon 164 of the connexin 32 gene. Neuroradiological and neurophysiological follow-up is reported during acute and chronic phases of disease, suggesting that during metabolic stress connexin 32 mutations lead to...

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Identifiers

PMID: 20382840
DOI: 10.1177/0883073809344119

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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