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Article

Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis.

Archives of neurology - 1 Dec 2010

Benedetti Sara, Previtali Stefano Carlo, Coviello Silvia, Scarlato Marina, Cerri Federica, Di Pierri Emanuela, Piantoni Lara, Spiga Ivana, Fazio Raffaella, Riva Nilo, Natali Sora Maria Grazia, Dacci Patrizia, Malaguti Maria Chiara, Munerati Elisabetta, Grimaldi Luigi Maria Edoardo, Marrosu Maria Giovanna, De Pellegrin Maurizio, Ferrari Maurizio, Comi Giancarlo, Quattrini Angelo, Bolino Alessandra

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth (CMT) neuropathies are very heterogeneous disorders from both a clinical and genetic point of view. The CMT genes identified so far encode different proteins that are variably involved in regulating Schwann cells and/or axonal functions. However, the function of most of these proteins still remains to be elucidated. OBJECTIVE: To characterize a large cohort of patients with...

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Identifiers

PMID: 21149811
DOI: 10.1001/archneurol.2010.303

Genes

EGR2
GJB1
HSBP1
MFN2
MPZ
NEFL

Provenance

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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