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Article

[Haplotype Analysis of Oculopharyngeal Muscular Dystrophy (OPMD) Locus in Yakutia].

Genetika - 1 Mar 2016

Marusin A V, Kurtanov Kh A, Maksimova N R, Svarovskaya M G, Stepanov V A

Abstract excerpt

Oculopharyngeal muscular dystrophy (OPMD) is a hereditary neuromuscular disease with autosomal dominant and rarely with autosomal recessive inheritance types. This study included 50 patients with a clinical diagnosis of OPMD, 23 asymptomatic carriers of the mutation from 45 unrelated families, and 56 healthy relatives, as well as population samples of four ethnic groups of Yakutia: Yakuts, Evens, Evenks,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27281858

Genes

GCA
GCG
PABPN1

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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