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Article

Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population.

Brain : a journal of neurology - 1 Mar 2001

Hill M E, Creed G A, McMullan T F, Tyers A G, Hilton-Jones D, Robinson D O, Hammans S R

Abstract excerpt

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of late onset that commonly presents with ptosis and dysphagia. The genetic basis of the condition has been identified recently as a stable trinucleotide repeat expansion in exon 1 of the poly(A) binding protein 2 gene (P...

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Source

Identifiers

PMID: 11222452
DOI: 10.1093/brain/124.3.522

Genes

GCG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11222452-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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