RAPSN and congenital myasthenic syndrome: For example, to a clinician familiar with CMS, it goes without saying that the connection between “congenital myasthenic syndrome” and “responsive to pyridostigmine” is true for CMS caused by RAPSN defects and false for that caused by defects in DOK7, but a database that only contains an entry for “congenital myasthenic syndrome” has no way of making that distinction.