MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination

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Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation

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Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNALys with the MERRF encephalomyopathy pathogenic mutation

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Decreased aminoacylation of mutant tRNAs inn MELAS but not in MERRF patients

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A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.

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