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Article

Clinical and molecular features of adPEO due to mutations in the Twinkle gene.

Journal of the neurological sciences - 15 Sept 2002

Lewis Sharon, Hutchison Wendy, Thyagarajan Dominic, Dahl Hans-Henrik M

Abstract excerpt

We have analyzed Twinkle, the causative gene for autosomal dominant progressive external ophthalmoplegia (adPEO) on chromosome 10, in 11 Australian autosomal dominant progressive external ophthalmoplegia families of Caucasian origin, and investigated whether there are distinct molecular and clinical features associated with mutations in this gene. We found two new mutations in Twinkle, in 3 of the 11 pedigrees...

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Identifiers

PMID: 12163192
DOI: 10.1016/s0022-510x(02)00190-9

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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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