| 1 | HSPD1, PMLD2 |
| Hypomyelinating leukodystrophy-associated missense mutation in HSPD1 blunts mitochondrial dynamics. | |
| Miyamoto Y, Eguchi T, Kawahara K, Hasegawa N, Nakamura K, Funakoshi-Tago M, Tanoue A, Tamura H, Yamauchi J. | |
| Biochem Biophys Res Commun 462(3):275-81. doi: 10.1016/j.bbrc.2015.04.132. Epub 2015 May 6. 2015 | |
| 2 | PMLD2, HSPD1 |
| Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. | |
| Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K, Mandel H. | |
| Am J Hum Genet 83(1):30-42. Epub 2008 Jun 19. 2008 | |