Article
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.
Human mutation - 1 Nov 2013
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
Abstract excerpt
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 identified novel missense mutations. All MTO1 mutations were predicted to be deleterious on MTO1 function. Their pathogenic...
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