Alternatively, other unknown partners may be involved as different ColQ COOH-terminal mutants, causing congenital myasthenia with AChE deficiency, displayed a reduced binding to basement membrane extracts devoid of MuSK, suggesting that the anchoring function of the ColQ C terminus is in part independent of MuSK (17). This evidence concerns the gene COLQ and hyperinsulinemic hypoglycemia, familial, 4.