Insights into the heterogeneity of oculopharyngeal muscular dystrophy.

doi:10.1007/s10048-025-00849-0

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Article

Insights into the heterogeneity of oculopharyngeal muscular dystrophy.

Neurogenetics - 24 Sept 2025

Kekou Kyriaki, Papadopoulos Constantinos, Svingou Maria, Chrysanthou-Piterou Margarita, Nitsa Evangelia, Veltra Danai, Marinakis Nikos, Tilemis Faidon-Nikolaos, Dimitrios Parissis, Arnaoutoglou Marianthi, Moschou Maria, Xirou Sophia, Bakirtzis Christos, Tsivgoulis Georgios, Papadimas Giorgos-Konstantinos, Sofocleous Christalena

Abstract excerpt

Oculopharyngeal muscular dystrophy (OPMD) is a rare, adult-onset, autosomal dominant myopathy characterized by variability in the age of onset and disease progression. However, its pathogenesis and phenotypic variability remain poorly understood. The disorder is caused by an expansion of a short polyalanine tract in the poly(A) binding protein nuclear 1 (PABPN1) gene. This study presents data from 23 patients...

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Topics

Humans
Muscular Dystrophy, Oculopharyngeal
Male
Female
Adult

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

Poly(A)-Binding Protein I

Middle Aged

Trinucleotide Repeat Expansion

Pedigree

Phenotype

Age of Onset

Genotype

Aged

Genetic Heterogeneity

Greece

Young Adult

Adolescent

Source

Open in PubMed Open full text

Identifiers

PMID: 40991068
DOI: 10.1007/s10048-025-00849-0
PMCID: PMC12460444

Genes

PABPN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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