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Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

Mutations in the mitochondrial helicase Twinkle underlie autosomal dominant progressive external ophthalmoplegia (PEO), as well as recessively inherited infantile-onset spinocerebellar ataxia and rare forms of mitochondrial DNA (mtDNA) depletion syndrome. Familial PEO is typically associated with th...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Goffart, Steffi, Cooper, Helen M., Tyynismaa, Henna, Wanrooij, Sjoerd, Suomalainen, Anu, Spelbrink, Johannes N.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2009
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2638771/
https://ncbi.nlm.nih.gov/pubmed/18971204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn359
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