Associated Papers
Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.
Yang J et al.
Cells, 2022
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Kamps R et al.
European Journal of Human Genetics : Ejhg, 2018
The genotypic and phenotypic spectrum of MTO1 deficiency.
O'Byrne JJ et al.
Molecular Genetics and Metabolism, 2018
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.
Baruffini E et al.
Human Mutation, 2013
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.
Ghezzi D et al.
American Journal of Human Genetics, 2012
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