COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ(10) Deficiency

Primary coenzyme Q10 (CoQ(10)) deficiencies are rare, clinically heterogeneous disorders caused by mutations in several genes encoding proteins involved in CoQ(10) biosynthesis. CoQ(10) is an essential component of the electron transport chain (ETC), where it shuttles electrons from complex I or II...

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Detalles Bibliográficos
Autores principales: Brea-Calvo, Gloria, Haack, Tobias B., Karall, Daniela, Ohtake, Akira, Invernizzi, Federica, Carrozzo, Rosalba, Kremer, Laura, Dusi, Sabrina, Fauth, Christine, Scholl-Bürgi, Sabine, Graf, Elisabeth, Ahting, Uwe, Resta, Nicoletta, Laforgia, Nicola, Verrigni, Daniela, Okazaki, Yasushi, Kohda, Masakazu, Martinelli, Diego, Freisinger, Peter, Strom, Tim M., Meitinger, Thomas, Lamperti, Costanza, Lacson, Atilano, Navas, Placido, Mayr, Johannes A., Bertini, Enrico, Murayama, Kei, Zeviani, Massimo, Prokisch, Holger, Ghezzi, Daniele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320255/
https://www.ncbi.nlm.nih.gov/pubmed/25658047
http://dx.doi.org/10.1016/j.ajhg.2014.12.023

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320255/
https://www.ncbi.nlm.nih.gov/pubmed/25658047
http://dx.doi.org/10.1016/j.ajhg.2014.12.023

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