| tRNA variant |
m.12315G>A |
| Gene |
MT-TL2 (mt-tRNA^Leu(CUN)) |
| Disease |
Mitochondrial encephalomyopathy with CPEO, ptosis, pigmentary retinopathy and hearing loss |
| Description |
Reduces mt-tRNA abundance and mitochondrial protein synthesis. |
| tRNAs |
tdbR00000984, trbR00001079
|
| Publications |
- 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.
K Fu, R Hartlen, T Johns, A Genge, G Karpati, E A Shoubridge
Human molecular genetics
volume: 5
issue: 11
PUBMED ID: 8923013
|
