Mitochondrial TRNY gene
The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.
Pulkes T et al. (2000) A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance.
Sahashi K et al. (2001) Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia.
Raffelsberger T et al. (2001) CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene.
Scaglia F et al. (2003) Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis.
Update: Aug. 14, 2020