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  • Title: A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.
    Author: Santorelli FM, Shanske S, Jain KD, Tick D, Schon EA, DiMauro S.
    Journal: Neurology; 1994 May; 44(5):972-4. PubMed ID: 8190310.
    Abstract:
    A 5-year-old child with clinical and radiologic evidence of Leigh syndrome (LS) showed a T-->C mutation at position nt 8993 in the mitochondrial DNA (instead of the more common T-->G substitution), resulting in an amino acid change from a highly conserved leucine to proline in subunit 6 of mitochondrial ATPase. The mutation was heteroplasmic and maternally inherited, and was present in high percentages in multiple tissues. This finding documents genetic heterogeneity of the ATPase 6 gene mutation associated with LS.
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