Article
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum.
Brain & development - 1 Mar 2017
Grosso Salvatore, Carluccio Maria Alessandra, Cardaioli Elena, Cerase Alfonso, Malandrini Alessandro, Romano Chiara, Federico Antonio, Dotti Maria Teresa
Abstract excerpt
BACKGROUND: Complex I deficiency is the most common energy generation disorder which may clinically present at any age with a wide spectrum of symptoms and signs. The T10158C mutation ND3 gene is rare and occurs in patients showing an early rapid neurological deterioration invariably leading to death after a few months. CASE PRESENTATION: We report a 9year-old boy with a mtDNA T10158C mutation showing a mild...
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