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Article

GCG repeats and phenotype in oculopharyngeal muscular dystrophy.

Muscle & nerve - 1 Jan 2001

Müller T, Schröder R, Zierz S

Abstract excerpt

Short GCG repeat expansions in the PABP2 gene were recently shown to cause oculopharyngeal muscular dystrophy (OPMD) in French-Canadian and Italian pedigrees. We diagnosed OPMD in 16 German patients by the detection of GCG repeat expansions, confirming genetic homogeneity. Myopathic and neurogeni...

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Source

Identifiers

PMID: 11150975
DOI: 10.1002/1097-4598(200101)24:1<120::aid-mus17>3.0.co;2-0

Genes

GCG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11150975-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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