• A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality 

      Crimi, M.; Papadimitriou, A.; Galbiati, S.; Palamidou, P.; Fortunato, F.; Bordoni, A.; Papandreou, U.; Papadimitriou, D.; Hadjigeorgiou, G. M.; Drogari, E.; Bresolin, N.; Comi, G. P. (2004)
      We describe a new mitochondrial DNA mutation in a male infant who presented clinical and magnetic resonance imaging features of Leigh syndrome and died at the age of 9 mo. The patient's development was reportedly normal ...