Variant: rs121434462

present in Gene: TRNL2;ND4;ND5 present in Chromosome: MT Position on Chromosome: 12315 Alleles of this Variant: G/A

rs121434462 in TRNL2;ND4;ND5 gene and MELAS Syndrome PMID 9361028 1997 Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy.

PMID 8923013 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.

PMID 19718780 2009 Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

PMID 18977334 2009 Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

PMID 12398839 2002 Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.