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Pathogenic mutations of human mitochondrial tRNAPhe. Pathogenic mutations are indicated by arrows on the left and are listed on the right. MM, mitochondrial myopathy; MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes; TN, tubulointerstitial nephritis; MERRF, myoclonic epilepsy with ragged red fibers; EXIT, exercise intolerance.
