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Article

CHMP2B mutations are rare in French families with frontotemporal lobar degeneration.

Journal of neurology - 1 Dec 2010

Ghanim Mustapha, Guillot-Noel Léna, Pasquier Florence, Jornea Ludmila, Deramecourt Vincent, Dubois Bruno, Le Ber Isabelle, Brice Alexis

Abstract excerpt

Two C-truncating CHMP2B (chromatin modifying protein 2B) mutations were recently found in Danish and Belgian families with autosomal dominant forms of frontotemporal lobar degeneration (FTLD). In addition, few CHMP2B missense mutations of uncertain pathogenic role were reported in several families with FTLD or FTLD associated with motoneuron disease (FTLD-MND). In order to determine the genetic contribution of...

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Identifiers

PMID: 20625756
DOI: 10.1007/s00415-010-5655-8

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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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CHMP2B mutations are rare in French families with frontotemporal lobar degeneration.PMID 20625756Read ↗

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