| 1 | COX6B1, COX6B1D |
| Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. | |
| Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P, Zeviani M. | |
| Am J Hum Genet 82(6):1281-9. Epub 2008 May 22. 2008 | |