Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency (CMS2C)

Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency, also known as congenital myasthenic syndrome 2c, is related to brain angioma and cystic lymphangioma. An important gene associated with Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency is CHRNB1 (Cholinergic Receptor Nicotinic Beta 1 Subunit), and among its related pathways/superpathways are Acetylcholine binding and downstream events and Succinylcholine Pathway, Pharmacokinetics/Pharmacodynamics. Related phenotypes are respiratory insufficiency and feeding difficulties