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Article

Study of a Taiwanese family with oculopharyngeal muscular dystrophy.

Journal of the neurological sciences - 15 Mar 2009

Kuo Hung-Chou, Chen Chiung-Mei, Lee-Chen Guey-Jen, Hu Fen-Ju, Chu Chun-Che, Liou Chia-Wei, Huang Chin-Chang

Abstract excerpt

BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal dominant muscle disorder. OPMD is caused by a short trinucleotide repeat expansion encoding an expanded polyalanine tract in the polyadenylate binding-protein nuclear 1 (PABPN1) gene. We identified and characterized a PABPN1 mutation in a Taiwanese family with OPMD. METHODS: The phenotypic and genotypic characteristics of all subjects...

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Source

Identifiers

PMID: 19101703
DOI: 10.1016/j.jns.2008.11.001

Genes

GCG
PABPN1
GCA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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