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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Publicado no:JIMD Rep
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2014
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Article
Acesso em linha: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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