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Article

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.

Archives of neurology - 1 Jul 2007

Baloh Robert H, Salavaggione Ezequiel, Milbrandt Jeffrey, Pestronk Alan

Abstract excerpt

OBJECTIVE: To describe the clinical phenotype and genetic basis of a family with autosomal dominant progressive external ophthalmoplegia and parkinsonism from a Twinkle mutation. DESIGN: All coding exons of POLG1, Twinkle (aka C10ORF2, PEO1), and ANT1 (SLC25A4) were sequenced in the proband with...

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Identifiers

PMID: 17620490
DOI: 10.1001/archneur.64.7.998

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17620490-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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