Congenital myasthenic syndromes (Q41374)

Congenital myasthenic syndrome (CMS) is a heterogeneous group of genetically determined diseases. There are four well-defined categories: Congenital myasthenic syndrome with presynaptic defect, Synaptic basal lamina-associated CMS, Congenital myasthenia with postsynaptic defect, CMS with glycosylation deficiency, and the remaining category is that of unidentified CMS.

Language	Label	Description	Also known as
default for all languages	8C61
English	Congenital myasthenic syndromes	Congenital myasthenic syndrome (CMS) is a heterogeneous group of genetically determined diseases. There are four well-defined categories: Congenital myasthenic syndrome with presynaptic defect, Synaptic basal lamina-associated CMS, Congenital myasthenia with postsynaptic defect, CMS with glycosylation deficiency, and the remaining category is that of unidentified CMS.