MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

We report three families presenting with hypertrophic cardiomyopathy, lactic acidosis, and multiple defects of mitochondrial respiratory chain (MRC) activities. By direct sequencing of the candidate gene MTO1, encoding the mitochondrial-tRNA modifier 1, or whole exome sequencing analysis, we identif...

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Detalles Bibliográficos
Autores principales: Baruffini, Enrico, Dallabona, Cristina, Invernizzi, Federica, Yarham, John W, Melchionda, Laura, Blakely, Emma L, Lamantea, Eleonora, Donnini, Claudia, Santra, Saikat, Vijayaraghavan, Suresh, Roper, Helen P, Burlina, Alberto, Kopajtich, Robert, Walther, Anett, Strom, Tim M, Haack, Tobias B, Prokisch, Holger, Taylor, Robert W, Ferrero, Ileana, Zeviani, Massimo, Ghezzi, Daniele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2013
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4028987/
https://www.ncbi.nlm.nih.gov/pubmed/23929671
http://dx.doi.org/10.1002/humu.22393

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