Table 1.

Responses to RNS in CMS due to mutations in presynaptic proteins and other proteins affecting presynaptic function.

Disorder	Gene	Low-frequency RNS	High-frequency RNS or MVC	References
Synaptobrevin-1-CMS	VAMP1	Decrement Increment (33–60%)	Increment (207–780%)	(9, 10)
Munc13-1-CMS	UNC13A	Decrement	Increment (400%)	(11)
Synaptotagmin 2-CMS	SYT2	Decrement No decrement	Increment (21–420%)	(12–14)
Laminin α5-CMS	LAMA5	Decrement	Increment (250%)	(15)
Agrin-CMS	AGRN	Decrement	No increment Increment (23–285%)	(16–22)
Choline acetyltransferase-CMS	CHAT	Decrement after conditioning at 10 Hz or maximal contraction Decrement at baseline No decrement	No increment	(23–28)
Vesicular acetylcholine transporter-CMS	SLC18A3	Decrement at baseline Decrement after 10 s maximal contraction	ND	(29)
Synaptosomal-associated protein 25-CMS	SNAP25	Decrement	ND	(30)
High-affinity choline transporter-CMS	SLC5A7	Decrement at baseline Decrement after conditioning at 20 Hz No decrement	ND	(31, 32)
Myosin 9a-CMS	MYO9A	Decrement No decrement	ND	(33)
Rabphilin 3A-CMS	RPH3A	No decrement	Increment (30%)	(34)
Paucity of synaptic vesicles and reduced quantal release	Unknown	Decrement	No increment	(35)
Laminin β2-CMS	LAMB2	Decrement	No increment	(36)

CMS, congenital myasthenic syndrome; ND, no data; RNS, repetitive nerve stimulation; MVC, maximum voluntary contraction.