Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
Lefkothea C. Papadopoulou(Aristotle University of Thessaloniki), Eric A. Schon(Columbia University Irving Medical Center), Paige Kaplan(Children's Hospital of Philadelphia), Jeanette M Selby, Carolyn M. Sue(UNSW Sydney), Kurenai Tanji(Columbia University), Darryl C. De Vivo(Columbia University Irving Medical Center), R.R. Lebel(Glen Ellyn Public Library), Ichizo Nishino(National Center of Neurology and Psychiatry), Sara Shanske(Columbia University), Rudy Van Coster, James E. Sadlock, Michio Hirano(Columbia University Irving Medical Center), Salvatore DiMauro(Columbia University), Winsome Walker, Sindu Krishna, Eduardo Bonilla(Columbia University), Gilles Lyon, D. Moira Glerum(University of Alberta), Mercy M. Davidson, Emmanuel Scalais(Clinique Saint-Joseph)
Cited by 571
Related Papers
Mitochondrial diseases
|Nature Reviews Disease Primers|2016|1.5k
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
|Nature|2000|941
Human mitochondrial DNA: roles of inherited and somatic mutations
|Nature Reviews Genetics|2012|747
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
|Genetics in Medicine|2014|605