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Article

Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.

Journal of the neurological sciences - 15 Sept 2011

Ronchi Dario, Fassone Elisa, Bordoni Andreina, Sciacco Monica, Lucchini Valeria, Di Fonzo Alessio, Rizzuti Mafalda, Colombo Irene, Napoli Laura, Ciscato Patrizia, Moggio Maurizio, Cosi Alessandra, Collotta Martina, Corti Stefania, Bresolin Nereo, Comi Giacomo P

Abstract excerpt

Maintenance and replication of mitochondrial DNA require the concerted action of several factors encoded by nuclear genome. The mitochondrial helicase Twinkle is a key player of replisome machinery. Heterozygous mutations in its coding gene, PEO1, are associated with progressive external ophthalmoplegia (PEO) characterised by ptosis and ophthalmoparesis, with cytochrome c oxidase (COX)-deficient fibres,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21689831
DOI: 10.1016/j.jns.2011.05.042
PMCID: PMC3158327

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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