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Article

Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy.

Journal of neurology, neurosurgery, and psychiatry - 1 Sept 2010

Solla Paolo, Vannelli Alessandro, Bolino Alessandra, Marrosu Giovanni, Coviello Silvia, Murru Maria Rita, Tranquilli Stefania, Corongiu Daniela, Benedetti Sara, Marrosu Maria Giovanna

Abstract excerpt

BACKGROUND: Heat shock protein 27 (HSP27) mutations have been reported to cause both Charcot-Marie-Tooth disease (CMT) type 2F and distal hereditary motor neuropathy (dHMN) although never previously in a single family. OBJECTIVE: To analyse clinical and electrophysiological findings obtained in a single large Sardinian family bearing the HSP27 R127W mutation. METHODS: Twenty-one members of a five generation...

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Identifiers

PMID: 20660910
DOI: 10.1136/jnnp.2009.181636

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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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