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Article

[A late-onset case of oculopharyngeal muscular dystrophy carrying a (GCG)8 repeat expansion in the PAPBN1 gene].

Rinsho shinkeigaku = Clinical neurology - 1 Jun 2005

Tokutake Takayoshi, Ikeuchi Takeshi, Tanaka Keiko, Onodera Osamu, Nishizawa Masatoyo

Abstract excerpt

We report a sporadic case of a female patient with oculopharyngeal muscular dystrophy (OPMD). Her father died at age 86 and mother at age 74. There was no familial occurrence of the disease. The patient initially developed a nasal voice at age 66. Neurological examinations on admission at age 72 revealed bilateral ptosis, a limitation of ocular movement without diplopia, dysphagia, and proximal muscle weakness....

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Source

Identifiers

PMID: 16022469

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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