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). The gene discussed is MUSK; the disease is hyperinsulinemic hypoglycemia, familial, 4.