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Article

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

Brain : a journal of neurology - 1 Nov 2007

Hakonen Anna H, Isohanni Pirjo, Paetau Anders, Herva Riitta, Suomalainen Anu, Lönnqvist Tuula

Abstract excerpt

Twinkle is a mitochondrial replicative helicase, the mutations of which have been associated with autosomal dominant progressive external ophthalmoplegia (adPEO), and recessively inherited infantile onset spinocerebellar ataxia (IOSCA). We report here a new phenotype in two siblings with compound heterozygous Twinkle mutations (A318T and Y508C), characterized by severe early onset encephalopathy and signs of...

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Identifiers

PMID: 17921179
DOI: 10.1093/brain/awm242

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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