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Article

(GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families.

Neuromuscular disorders : NMD - 1 Feb 2005

Rodríguez M, Camejo C, Bertoni B, Braida C, Rodríguez M M, Brais B, Medici M, Roche L

Abstract excerpt

The dominant oculo-pharyngeal muscular dystrophy mutation consists of an expanded (GCN)(12-17) in the coding region of the PolyA Binding Protein Nuclear 1 gene. A founder effect has been demonstrated in Canadian and Bukhara Jewish populations with relatively high prevalence of this disease. Since the oculo-pharyngeal muscular dystrophy prevalence was remarkably high in Southern Uruguay, a founder effect was...

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Source

Identifiers

PMID: 15694141
DOI: 10.1016/j.nmd.2004.10.012

Genes

GCG
GCA
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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