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Article

Mutation and haplotype analysis of oculopharyngeal muscular dystrophy in Thai patients.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 May 2011

Pulkes T, Papsing C, Busabaratana M, Dejthevaporn C, Witoonpanich R

Abstract excerpt

Oculopharyngeal muscular dystrophy (OPMD) is an inherited neuromuscular disease associated with a short trinucleotide repeat expansion in Exon 1 of the PABPN1 gene. OPMD is uncommon in East Asian populations, and there have been no previous reports of Thai patients. We studied clinical and molecular genetic features of six unrelated Thai patients with autosomal dominant OPMD. All patients had expansions of the...

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Source

Identifiers

PMID: 21316245
DOI: 10.1016/j.jocn.2010.08.020

Genes

GCG
PABPN1

Provenance

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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