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.