Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). - Donger,C.; Krejci,E.; Serradell,A.P.; Eymard,B.; Bon,S.; Nicole,S. (Am J Hum Genet, 1998)