Point mutations, mtDNA tRNA genes

Point Mutations in rRNA/tRNA Genes of mtDNA Associated with Mitochondrial Diseases 2... 

A number of distinctive syndromes have been shown to be associated with specific point mutations of mtDNA (Table 1) (M15, S4, S14). Several point mutations have been reported to occur at tRNA genes in the mitochondrial genome. For example, the A8344G mutation is present in patients with MERRF syndrome (S9), whereas the A3243G mutation of mtDNA was first identified in a subgroup of patients with MELAS syndrome (G4). MERRF syndrome was the first... 

II. mtDNA point mutations in tRNA or ribosomal RNA genes ... 

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