We are using technical cookies that are necessary for page to work correctly.

m.8344A>G, MT-TK (mt-tRNA^Lys), MERRF

tRNA variant m.8344A>G
Gene MT-TK (mt-tRNA^Lys)
Disease MERRF
Description Defective aminoacylation and wobble modification of mt-tRNA Lys leading to impaired translation.
tRNAs trbR00001077, tdbR00000981
Publications
  • Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.
    J M Shoffner, M T Lott, A M Lezza, P Seibel, S W Ballinger, D C Wallace
    Cell
    volume: 61 issue: 6 date: June 15, 1990 PUBMED ID: 2112427