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Article

Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy.

Human molecular genetics - 15 Jan 2004

Hino Hirotake, Araki Kimi, Uyama Eiichiro, Takeya Motohiro, Araki Masatake, Yoshinobu Kumiko, Miike Koichiro, Kawazoe Yasuhiro, Maeda Yasushi, Uchino Makoto, Yamamura Ken-ichi

Abstract excerpt

Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) is a late-onset disorder characterized clinically by progressive ptosis, dysphagia and limb weakness, and by unique intranuclear inclusions in the skeletal muscle fibers. The disease is caused by the expansion of a 10-alanine stretch to 12-17 alanine residues in the poly(A)-binding protein, nuclear 1 (PABPN1; PABP2). While PABPN1 is a major component of...

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Source

Identifiers

PMID: 14645203
DOI: 10.1093/hmg/ddh017

Genes

PABPN1

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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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Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy.PMID 14645203Read ↗

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