| 1 | CNM6, ZAK |
| Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. | |
| Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmüller H, Brais B, Laporte J, Tétreault M. | |
| Brain 140(1):37-48. doi: 10.1093/brain/aww257. Epub 2016 Nov 5. 2017 | |