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Article

Central nervous system abnormalities in patients with PMP22 gene mutations: a prospective study.

Journal of neurology, neurosurgery, and psychiatry - 1 Apr 2013

Chanson Jean-Baptiste, Echaniz-Laguna Andoni, Blanc Frédéric, Lacour Arnaud, Ballonzoli Laurent, Kremer Stéphane, Namer Izzie-Jacques, Lannes Béatrice, Tranchant Christine, Vermersch Patrick, de Seze Jérôme

Abstract excerpt

BACKGROUND: Mutations of the peripheral myelin protein-22 (PMP22) gene are the most common cause of inherited disease of the peripheral nervous system (PNS), with its deletion resulting in hereditary neuropathy with liability to pressure palsies (HNPP), and its duplication inducing Charcot-Marie-...

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Identifiers

PMID: 23243264
DOI: 10.1136/jnnp-2012-303725

Genes

PMP22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23243264-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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