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Article

Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy.

Journal of neurology - 1 Aug 2012

Tondo Mireia, Gámez Josep, Gutiérrez-Rivas Eduardo, Medel-Jiménez Ramón, Martorell Loreto

Abstract excerpt

Oculopharyngeal muscular dystrophy is an autosomal dominant adult-onset disease with several clinical features. The genetic cause is an expanded (GCN)n mutation coding for polyalanine. Severity and the age of onset are variable and may depend on the size of the unstable triplet. Our objectives were to correlate the genotypic and phenotypic features in 34 affected patients, and to complete the molecular analysis...

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Identifiers

PMID: 22231868
DOI: 10.1007/s00415-011-6374-5

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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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