Myasthenic Syndrome, Congenital, 19 (CMS19)

Myasthenic Syndrome, Congenital, 19, also known as congenital myasthenic syndrome 19, is related to presynaptic congenital myasthenic syndromes and postsynaptic congenital myasthenic syndromes. An important gene associated with Myasthenic Syndrome, Congenital, 19 is COL13A1 (Collagen Type XIII Alpha 1 Chain), and among its related pathways/superpathways are Extracellular matrix organization and Non-integrin membrane-ECM interactions. Affiliated tissues include skeletal muscle and lung, and related phenotypes are ptosis and high palate