label: Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency
label_lc: myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
description: "An autosomal recessive condition caused by mutation(s) in the RAPSN gene, encoding 43 kDa receptor-associated protein of the synapse. It is characterized by postsynaptic neuromuscular junction dysfunction resulting in muscle weakness of variable severity."