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Article

Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain.

Pain - 1 Aug 2012

Ramirez Juan D, Barnes Phillip R J, Mills Kerry R, Bennett David L H

Abstract excerpt

We report an English kindred affected across 4 generations with a hereditary neuropathy associated with debilitating neuropathic pain as the main clinical feature. The principal finding on clinical examination was sensory loss, and there was variable motor dysfunction. Electrophysiological studies revealed mild features of demyelination with median conduction velocity in the intermediate range. There was an...

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Identifiers

PMID: 22704856
DOI: 10.1016/j.pain.2012.05.015
PMCID: PMC3399778

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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