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Article

Oculopharyngeal muscular dystrophy: phenotypic and genotypic characteristics of 9 Polish patients.

Neurologia i neurochirurgia polska - 1 Jan 2000

Nadaj-Pakleza Aleksandra, Richard Pascale, Lusakowska Anna, Gajewska Joanna, Jamrozik Zygmunt, Kostera-Pruszczyk Anna, Kwieciński Hubert, Kamińska Anna

Abstract excerpt

BACKGROUND AND PURPOSE: Oculopharyngeal muscular dystrophy (OPMD) is mostly an autosomal dominant myopathic disorder, characterized by progressive bilateral ptosis, dysphagia and proximal muscle weakness, appearing usually in the fifth to sixth decade of life. The underlying cause of OPMD is an expanded GCG repeat in the first exon of the gene encoding poly (A)-binding protein nuclear 1 (PABPN1) localized on...

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Source

Identifiers

PMID: 19484687

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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