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Article

Variability of the recessive oculopharyngeal muscular dystrophy phenotype.

Muscle & nerve - 1 May 2007

Semmler Alexander, Kress Wolfram, Vielhaber Stefan, Schröder Rolf, Kornblum Cornelia

Abstract excerpt

Oculopharyngeal muscular dystrophy (OPMD) is usually transmitted as an autosomal-dominant trait and characterized by an expansion from 6 to 8 or more GCG/GCA repeats in the poly-(A) binding protein nuclear 1 (PABPN1) gene on chromosome 14q11. Autosomal-recessive OPMD with a homozygous (GCG)7 expansion of PABPN1 has only been described in two Canadian patients, who showed a comparably mild phenotype, suggesting...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17206657
DOI: 10.1002/mus.20726

Genes

GCG
PABPN1
GCA

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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