| 1 | CSM1B, DOK7, MPTLT5 |
| Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes. | |
| Müller JS, Jepson CD, Laval SH, Bushby K, Straub V, Lochmüller H. | |
| Hum Mol Genet 19(9):1726-40. Epub 2010 Feb 10. 2010 | |
| 2 | DOK7, MPTLT5 |
| Germline mutation in DOK7 associated with fetal akinesia deformation sequence. | |
| Vogt J, Morgan NV, Marton T, Maxwell S, Harrison BJ, Beeson D, Maher ER. | |
| J Med Genet 46(5):338-40. Epub 2009 Mar 3. 2009 | |