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.
|Titolo:||Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum|
|Rivista:||BRAIN & DEVELOPMENT|
|Citazione:||Grosso, S., Carluccio, M.A., Cardaioli, E., Cerase, A., Malandrini, A., Romano, C., et al. (2017). Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum. BRAIN & DEVELOPMENT, 39(3), 261-265.|
|Appare nelle tipologie:||1.1 Articolo in rivista|