Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

Dysfunction of mitochondrial respiration is an increasingly recognized cause of isolated hypertrophic cardiomyopathy. To gain insight into the genetic origin of this condition, we used next-generation exome sequencing to identify mutations in MTO1, which encodes mitochondrial translation optimizatio...

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Detalhes bibliográficos
Main Authors: Ghezzi, Daniele, Baruffini, Enrico, Haack, Tobias B., Invernizzi, Federica, Melchionda, Laura, Dallabona, Cristina, Strom, Tim M., Parini, Rossella, Burlina, Alberto B., Meitinger, Thomas, Prokisch, Holger, Ferrero, Ileana, Zeviani, Massimo
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3370278/
https://ncbi.nlm.nih.gov/pubmed/22608499
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.04.011
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