Article
Pathophysiology of the MELAS 3243 transition mutation.
The Journal of biological chemistry - 24 Oct 1997
Flierl A, Reichmann H, Seibel P
Abstract excerpt
Single base substitutions of the mitochondrial genome are associated with a variety of metabolic disorders. The myopathy, encephalopathy, lactic acidosis, stroke-like episodes syndrome, most frequently associated with an A to G transition mutation at position 3243 of the mitochondrial tRNALeu(UUR) gene, is characterized by biochemical and structural alterations of mitochondria. To investigate the pathophysiology...
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