Mitochondrial TRNL2 gene
The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.
Tessa A et al. (1999) MtDNA-related idiopathic dilated cardiomyopathy.
Grasso M et al. (2001) The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy.
Fu K et al. (1996) A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.
Weber K et al. (1997) A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle.
Orphanet ID 183924
Update: Aug. 14, 2020