| 1 | CCDC78, CMAC |
| Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores. | |
| Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ. | |
| Am J Hum Genet 91(2):365-71. Epub 2012 Jul 19. 2012 | |