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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Main Authors: 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.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Elsevier 2011
Ábhair:
Short Communication
Rochtain Ar Líne: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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