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Article

Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy.

Journal of neurology - 1 Jul 2006

Müller T, Deschauer M, Kolbe-Fehr F, Zierz St

Abstract excerpt

Oculopharyngeal muscular dystrophy (OPMD) is due to short elongations of a polyalanine tract in the poly(A) binding protein nuclear 1 (PABPN1) gene. Originally GCG expansions in which (GCG)(6) is extended to (GCG)(7-13) were found. Subsequently five further genotypes with additional GCA- and GCG-...

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Source

Identifiers

PMID: 16619122
DOI: 10.1007/s00415-006-0126-y

Genes

GCG
GCA
PABPN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16619122-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy.PMID 16619122Read ↗

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Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophySemantic proximity Read ↗

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