| 1 | CNTN1, FLCM |
| Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. | |
| Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Challis D, Mowat D, Ranscht B, Bahlo M, Froehner SC, North KN. | |
| Am J Hum Genet 83(6):714-24. Epub 2008 Nov 20. 2008 | |