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Article

A de novo PABPN1 germline mutation in a patient with oculopharyngeal muscular dystrophy.

The Laryngoscope - 1 Jan 2006

Gürtler Nicolas, Plasilova Martina, Podvinec Mihael, Boesch Nemya, Müller Hansjakob, Heinimann Karl

Abstract excerpt

BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominantly inherited disorder characterized by dysphagia, ptosis, and proximal limb weakness and is caused by germline mutations (triplet repeat expansions) in the polyadenylate binding protein nuclear 1 (PABPN1) gene. OBJECTIVE: To describe a 70-year-old female patient with OPMD on the clinical and molecular genetic level and to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16481821
DOI: 10.1097/01.mlg.0000185602.86655.b5

Genes

PABPN1
GCG

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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