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A novel ATP8 gene mutation in an infant with tetralogy of Fallot
Turkan Tansel, Ferda Paçal, Duran Ustek
Journal:

Cardiology in the Young / Volume 24 / Issue 3 / June 2014

Published online by Cambridge University Press:

05 June 2013, pp. 531-533
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We report the case of a novel mitochondrial DNA mutation in the MT-ATP8 gene in an infant with tetralogy of Fallot. Next-generation sequencing was applied to sequence whole mitochondrial DNA of the patient. A known Leber's hereditary optic neuropathy-associated mutation (G9804A), a heteroplasmic T7501C mutation (17%), and a novel C8481 T Pro > Leu missense mutation in the MT-ATP8 gene was identified.

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A novel ATP8 gene mutation in an infant with tetralogy of Fallot