Furthermore, the defective τm5U34 modification and mitochondrial translations were observed in mutant cell lines carrying the GTPBP3 mutations, derived from patients of families with hypertrophic cardiomyopathy (HCM) characterized by myocardial and myocyte hypertrophy in left ventricle (14,32). This evidence concerns the gene GTPBP3 and hypertrophic cardiomyopathy.