1 | CIA30D, NDUFAF1 |
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. | |
Fassone E, Taanman JW, Hargreaves IP, Sebire NJ, Cleary MA, Burch M, Rahman S. | |
J Med Genet 48(10):691-7. doi: 10.1136/jmedgenet-2011-100340. 2011 | |
2 | CIA30D,NDUFAF1 |
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. | |
Dunning CJ, McKenzie M, Sugiana C, Lazarou M, Silke J, Connelly A, Fletcher JM, Kirby DM, Thorburn DR, Ryan MT. | |
EMBO J 26(13):3227-37. Epub 2007 Jun 7. 2007 | |