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Article

Recessive twinkle mutations cause severe epileptic encephalopathy.

Brain : a journal of neurology - 1 Jun 2009

Lönnqvist Tuula, Paetau Anders, Valanne Leena, Pihko Helena

Abstract excerpt

The C10orf2 gene encodes the mitochondrial DNA helicase Twinkle, which is one of the proteins important for mitochondrial DNA maintenance. Dominant mutations cause multiple mitochondrial DNA deletions and progressive external ophthalmoplegia, but recent findings associate recessive mutations with mitochondrial DNA depletion and encephalopathy or hepatoencephalopathy. The latter clinical phenotypes resemble those...

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Identifiers

PMID: 19304794
DOI: 10.1093/brain/awp045

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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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