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To report on the molecular identification of a novel heteroplasmic G-to-A transition at mitochondrial DNA position 3249 in transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome.

A New Mitochondrial Point Mutation in the Transfer RNALeu Gene in a Patient With a Clinical Phenotype Resembling Kearns-Sayre Syndrome