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Article

Variable phenotypes are associated with PMP22 missense mutations.

Neuromuscular disorders : NMD - 1 Feb 2011

Russo M, Laurá M, Polke J M, Davis M B, Blake J, Brandner S, Hughes R A C, Houlden H, Bennett D L H, Lunn M P T, Reilly M M

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is the commonest hereditary neuropathy encompassing a large group of clinically and genetically heterogeneous disorders. The commonest form of CMT, CMT1A, is usually caused by a 1.4 megabase duplication of chromosome 17 containing the PMP22 gene. Mutations of PMP22 are a less common cause of CMT. We describe clinical, electrophysiological and molecular findings of 10 patients...

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Source

Identifiers

PMID: 21194947
DOI: 10.1016/j.nmd.2010.11.011

Genes

PMP22

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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