Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia()

Maintenance and replication of mitochondrial DNA require the concerted action of several factors encoded by nuclear genome. The mitochondrial helicase Twinkle is a key player of replisome machinery. Heterozygous mutations in its coding gene, PEO1, are associated with progressive external ophthalmopl...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Ronchi, Dario, Fassone, Elisa, Bordoni, Andreina, Sciacco, Monica, Lucchini, Valeria, Di Fonzo, Alessio, Rizzuti, Mafalda, Colombo, Irene, Napoli, Laura, Ciscato, Patrizia, Moggio, Maurizio, Cosi, Alessandra, Collotta, Martina, Corti, Stefania, Bresolin, Nereo, Comi, Giacomo P.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2011
Sujets:
Short Communication
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3158327/
https://ncbi.nlm.nih.gov/pubmed/21689831
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jns.2011.05.042
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