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Article

Mutation analysis of oculopharyngeal muscular dystrophy in Hispanic American families.

Archives of neurology - 1 Nov 1999

Grewal R P, Karkera J D, Grewal R K, Detera-Wadleigh S D

Abstract excerpt

BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant muscular dystrophy characterized by progressive ptosis, swallowing difficulties, and proximal limb weakness. Recently, the genetic basis of this disease has been characterized by mutations in the PABP2 gene that involve short expansions of the trinucleotide repeat GCG. OBJECTIVES: To independently confirm the presence and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10555658
DOI: 10.1001/archneur.56.11.1378

Genes

GCG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation analysis of oculopharyngeal muscular dystrophy in Hispanic American families.PMID 10555658Read ↗

Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD).Semantic proximity Read ↗

Oculopharyngeal muscular dystrophy in Hispanic New Mexicans.Semantic proximity Read ↗

Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism.Semantic proximity Read ↗

Study of a Taiwanese family with oculopharyngeal muscular dystrophy.Semantic proximity Read ↗

Identification of a novel mutation in a Korean patient with oculopharyngeal muscular dystrophy.Semantic proximity Read ↗

A de novo PABPN1 germline mutation in a patient with oculopharyngeal muscular dystrophy.Semantic proximity Read ↗

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

Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene.Semantic proximity Read ↗

[A late-onset case of oculopharyngeal muscular dystrophy carrying a (GCG)8 repeat expansion in the PAPBN1 gene].Semantic proximity Read ↗

Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a Chinese population.Semantic proximity Read ↗

Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects.Semantic proximity Read ↗

Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population.Semantic proximity Read ↗

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