Catalog

Congenital myasthenia with synaptic basal lamina defects

No MMS code

Link to WHO Definition

Congenital myasthenia with synaptic basal lamina defects – http://id.who.int/icd/entity/7881372

Synaptic basal lamina-associated congenital myasthenic syndrome accounts for 1—15% of myasthenic cases and includes endplate acetylecholinesterase deficiency, Laminin α2 deficiency and Agrin anomaly.