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Article

Oculopharyngeal muscular dystrophy: a polyalanine myopathy.

Current neurology and neuroscience reports - 1 Jan 2009

Brais Bernard

Abstract excerpt

It has been 10 years since the identification of the first PABPN1 gene (GCN)(n)/polyalanine mutations responsible for oculopharyngeal muscular dystrophy (OPMD). These mutations have been found in most cases of OPMD diagnosed in more than 35 countries. Sequence analyses have shown that such mutations have occurred numerous times in human history. Although PABPN1 was found early on to be a component of the classic...

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Source

Identifiers

PMID: 19080757
DOI: 10.1007/s11910-009-0012-y

Genes

PABPN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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