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Article

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.

Neuromolecular medicine - 1 Jan 2006

Niemann Axel, Berger Philipp, Suter Ueli

Abstract excerpt

We review the putative functions and malfunctions of proteins encoded by genes mutated in Charcot-Marie-Tooth disease (CMT; inherited motor and sensory neuropathies) in normal and affected peripheral nerves. Some proteins implicated in demyelinating CMT, peripheral myelin protein 22, protein zero (P0), and connexin32 (Cx32/GJB1) are crucial components of myelin. Periaxin is involved in connecting myelin to the...

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Source

Identifiers

PMID: 16775378
DOI: 10.1385/nmm:8:1-2:217

Genes

DNM2
GDAP1
GJB1
EGR2
MTMR2

Provenance

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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