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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2011
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3158327/
https://www.ncbi.nlm.nih.gov/pubmed/21689831
http://dx.doi.org/10.1016/j.jns.2011.05.042

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