The severity of SLC18A3-associated disease is highly variable. SLC18A3 mutations lead to inefficient release of a neurotransmitter called acetylcholine from neurons. This leads to muscle fatigability and weakness. Some SLC18A3 mutations seem to have a more severe effect than some other mutations: complete inability to release acetylcholine from neurons appears to cause severe symptoms already during fetal life. The majority of SLC18A3 mutations reported by 2021 are associated with a milder presentation, congenital myasthenic syndrome presenting after birth.
SLC18A3