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Article

Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres.

Human molecular genetics - 1 Jun 2010

Trollet Capucine, Anvar Seyed Yahya, Venema Andrea, Hargreaves Iain P, Foster Keith, Vignaud Alban, Ferry Arnaud, Negroni Elisa, Hourde Christophe, Baraibar Martin A, 't Hoen Peter A C, Davies Janet E, Rubinsztein David C, Heales Simon J, Mouly Vincent, van der Maarel Silvère M, Butler-Browne Gillian, Raz Vered, Dickson George

Abstract excerpt

Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disorder characterized by ptosis, dysphagia and proximal limb weakness. Autosomal-dominant OPMD is caused by a short (GCG)(8-13) expansions within the first exon of the poly(A)-binding protein nuclear 1 gene (PABPN1), leading to an expan...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intranuclear Inclusion Bodies

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Share to Muscle Fibers, Fast-Twitch

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Source

Identifiers

PMID: 20207626
DOI: 10.1093/hmg/ddq098

Genes

PABPN1
GCG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20207626-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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