| 1 | COX15, COX15D |
| Leigh syndrome associated with a novel mutation in the COX15 gene. | |
| Miryounesi M, Fardaei M, Tabei SM, Ghafouri-Fard S. | |
| J Pediatr Endocrinol Metab 29(6):741-4. doi: 10.1515/jpem-2015-0396. 2016 | |
| 2 | COX15, COX15D, FHCM1 |
| Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. | |
| Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA. | |
| Am J Hum Genet 72(1):101-14. Epub 2002 Dec 9. 2003 | |