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Article

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

Journal of neurology - 1 Sept 2008

Virgilio Roberta, Ronchi Dario, Hadjigeorgiou Georgios M, Bordoni Andreina, Saladino Francesca, Moggio Maurizio, Adobbati Laura, Kafetsouli Demetra, Tsironi Evangelia, Previtali Stefano, Papadimitriou Alexandros, Bresolin Nereo, Comi Giacomo P

Abstract excerpt

Multiple deletions of mitochondrial DNA (mtDNA) are associated with different mitochondrial disorders inherited as autosomal dominant and recessive traits. Causative mutations have been found in five genes, mainly involved in mtDNA replication and stability. They include POLG1, the gene encoding the catalytic subunit of mtDNA polymerase (pol gamma), POLG2 encoding its accessory subunit, ANT1 coding the adenine...

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Share to DNA-Directed DNA Polymerase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Polymerase gamma

Share to Gene Deletion

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Share to Mitochondria, Muscle

Share to Mitochondrial Proteins

Share to Ophthalmoplegia, Chronic Progressive External

Source

Identifiers

PMID: 18575922
DOI: 10.1007/s00415-008-0926-3

Genes

POLG2
OPA1

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

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Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.PMID 18575922Read ↗

Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.Semantic proximity Read ↗

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The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.Semantic proximity Read ↗

Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.Semantic proximity Read ↗

Phenotype and clinical course in a family with a new de novo Twinkle gene mutation.Semantic proximity Read ↗

Mutations of <i>ANT1</i> , <i>Twinkle</i> , and <i>POLG1</i> in sporadic progressive external ophthalmoplegia (PEO)Semantic proximity Read ↗

TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.Semantic proximity Read ↗

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Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.Semantic proximity Read ↗

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