| 1 | CMS13A, CMS19 |
| Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain. | |
| Logan CV, Cossins J, Rodríguez Cruz PM, Parry DA, Maxwell S, Martínez-Martínez P, Riepsaame J, Abdelhamed ZA, Lake AV, Moran M, Robb S, Chow G, Sewry C, Hopkins PM, Sheridan E, Jayawant S, Palace J, Johnson CA, Beeson D. | |
| Am J Hum Genet 97(6):878-85. doi: 10.1016/j.ajhg.2015.10.017. Epub 2015 Nov 25. 2015 | |