The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
Klaus Gempel(München Klinik Schwabing), Rita Horváth(University of Cambridge), Peter Schneiderat(Evangelisches Krankenhaus Bielefeld), Benedikt Schoser(Friedrich Baur Stiftung), Ayşegül Tokatlı(Evangelisches Krankenhaus Bielefeld), Catarina M. Quinzii(Columbia University Irving Medical Center), Holger Prokisch(Helmholtz Zentrum München), Volkmar Hans(Evangelisches Krankenhaus Bielefeld), Hanns Lochmüller(University of Ottawa), Ali Naini(Columbia University), Haluk Topaloğlu(Yeditepe University), Michio Hirano(Columbia University Irving Medical Center), Salvatore DiMauro(Columbia University), Beril Talim(Evangelisches Krankenhaus Bielefeld), Gülsev Kale(Evangelisches Krankenhaus Bielefeld), Beatrix Pálmafy(Evangelisches Krankenhaus Bielefeld)
Cited by 319
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