Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

ATP synthase or complex V (cV) of the oxidative phosphorylation system is responsible for the production of ATP, dissipating the electrochemical gradient generated by the mitochondrial respiratory chain. In addition to maternally transmitted cV dysfunction caused by mutations in mtDNA genes (MT-ATP6...

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Опубликовано в: :JIMD Rep
Главные авторы: Diodato, Daria, Invernizzi, Federica, Lamantea, Eleonora, Fagiolari, Gigliola, Parini, Rossella, Menni, Francesca, Parenti, Giancarlo, Bollani, Lina, Pasquini, Elisabetta, Donati, Maria A., Cassandrini, Denise, Santorelli, Filippo M., Haack, Tobias B., Prokisch, Holger, Ghezzi, Daniele, Lamperti, Costanza, Zeviani, Massimo
Формат: Artigo
Язык:Inglês
Опубликовано: Springer Berlin Heidelberg 2014
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4270871/
https://ncbi.nlm.nih.gov/pubmed/24740313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_300
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