| 1 | ECMBA, FASTKD2 |
| FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. | |
| Ghezzi D, Saada A, D'Adamo P, Fernandez-Vizarra E, Gasparini P, Tiranti V, Elpeleg O, Zeviani M. | |
| Am J Hum Genet 83(3):415-23. Epub 2008 Sep 4. 2008 | |