Brea-Calvo G, et al. (2015) COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am J Hum Genet 96(2):309-17 PMID:25658047
Haack TB, et al. (2013) ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am J Hum Genet 93(2):211-23 PMID:23849775
Mayr JA, et al. (2007) Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. Am J Hum Genet 80(3):478-84 PMID:17273968