Mitochondrial TRNR gene
The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.
None (2001) Modifying with mitochondria.
Johnson KR et al. (2001) A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice.
Uusimaa J et al. (2004) Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes.
Smits P et al. (2010) Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.
Update: Aug. 14, 2020