Condition: Myopathy, Congenital, Compton-North
rs1555185778
in
CNTN1
gene and
Myopathy, Congenital, Compton-North
PMID 19026398
2008 Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.
PMID 22242131
2011 A spontaneous mutation in contactin 1 in the mouse.