Ethylmalonic encephalopathy is caused by mutations in the ETHE1, a gene coding a mitochondrial matrix protein. - Tiranti,VD.; Adarmo,R.; Briem,E.; Ferrari,G.; Mineri,R.; Lamantea,E.; Mandel,H.; Balestri,P.; Garcia Sylva,MT.; Vollmer,B.; Rinaldo,P.; Hahn,SH.; et al. (Am J Hum Genet, 2004)