The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.

Abstract

So far, MERRF has been associated with mutations of the mitochondrial tRNALys, and MELAS with mutations of the mitochondrial tRNALeu(UUR). Now MERRF may also be considered among the clinical syndromes associated with the A to G transition at nt 3243 of the tRNALeu(UUR).