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Article

The First Heterozygous TWNK Nonsense Mutation Associated with Progressive External Ophthalmoplegia: Evidence for a New Piece in the Puzzle of Mitochondrial Diseases.

Biomolecules - 18 Sept 2025

Lopergolo Diego, Berti Gianna, Gallus Gian Nicola, Bianchi Silvia, Santorelli Filippo Maria, Malandrini Alessandro, De Stefano Nicola

Abstract excerpt

BACKGROUND: The TWNK gene encodes a protein that colocalizes with mitochondrial DNA (mtDNA) in mitochondrial nucleoids. It acts as mtDNA helicase during replication, thus playing a pivotal role in the replication and maintenance of mtDNA stability. TWNK mutations are associated with a wide spectrum of clinical phenotypes and a marked heterogeneity. However, heterozygous nonsense variants in the gene have never...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41008644
DOI: 10.3390/biom15091337
PMCID: PMC12467334

Genes

TWNK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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