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Article

Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.

Neuromuscular disorders : NMD - 1 Mar 2005

Goh Khean Jin, Wong Kum Thong, Nishino Ichizo, Minami Narihiro, Nonaka Ikuya

Abstract excerpt

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of middle age presenting as progressive dysphagia and eyelid ptosis, due to short expansions of the GCG trinucleotide repeat (from GCG6 to GCG8-13) in the polyadenylate binding-protein nuclear 1 (PABPN1) gene. OPMD is rarely seen in Asians and morphologically and/or genetically confirmed cases have been reported in Japanese kindreds only....

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Source

Identifiers

PMID: 15725589
DOI: 10.1016/j.nmd.2004.10.016

Genes

GCG
PABPN1

Provenance

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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