Table 1.

Clinical features of reported AGRN-mutant CMS

Reports	Gender	Onset	Fluctuation	Clinical forms	RNS	Mutations	Affected domain	Response to Treatment
Reports	Gender	Onset	Fluctuation	Ocular/Facial/Proximal/Distal/Respiratory	(3 Hz)	Mutations	Affected domain	AChEI	3,4-DAP	β2-receptor agonist
2009 [15]	F	Early childhood	+^a	+/+/+/+/ND	+	G1709R	LG2	–	–	+
2009 [15]	F	Early childhood	+^a	+/+/+/+/ND	+	G1709R	LG2	–	–	+
2009 [15]	M	Early childhood	+	+/ND/+/ND/ND	+	G1709R	LG2	–	+	+
2009 [15]	M	Early childhood	+	+/ND/+/ND/ND	+	G1709R	LG2	–	+	+
2012 [17]	F	Early childhood	+	+/+/+/+/+	+	V1727F	LG2	+	–	–
2012 [17]	F	Early childhood	+	+/+/+/+/+	+	Q353X	FS	+	–	–
2014[16]	F	15y	–	−/−/+/+/ND	+	G76S	NtA	–	ND	ND
2014[16]	F	15y	–	−/−/+/+/ND	+	chr1del	chr1del	–	ND	ND
2014[16]	M	15y	–	−/−/−/+/ND	+	G76S	NtA	–	ND	ND
2014[16]	M	15y	–	−/−/−/+/ND	+	chr1del	chr1del	–	ND	ND
2014[16]	M	2y	+	−/−/+/+/−	+	N105I	NtA	–	–	+
2014[16]	M	2y	+	−/−/+/+/−	+	S455Q	FS	–	–	+
2014[16]	F	At birth	+	−/+/ND/+/−	+	N105I	NtA	–	–	+
2014[16]	F	At birth	+	−/+/ND/+/−	+	S455Q	FS	–	–	+
2014[16]	M	5y	–	+/ND/+/+/ND	+	G1871R	LG3	ND	ND	+
2014[16]	M	5y	–	+/ND/+/+/ND	+	G1871R	LG3	ND	ND	+
2017 [18]	M	1.5y	ND	+/ND/+/−/ND	+	G1675S	LG2	+	ND	+
2017 [18]	M	1.5y	ND	+/ND/+/−/ND	+	G1675S	LG2	+	ND	+
2017[19]	M	21y	+	−/−/+/+/−	+	A1768P	LG2	+/−^b	ND	+
2017[19]	M	21y	+	−/−/+/+/−	+	A1768P	LG2	+/−^b	ND	+
2017[19]	F	7y	ND	−/−/+/+/−	ND	A1768P	LG2	+/−^b	ND	+
2017[19]	F	7y	ND	−/−/+/+/−	ND	A1768P	LG2	+/−^b	ND	+
2017[19]	F	ND	ND	ND	ND	A1768P	LG2	+/−^b	ND	+
2017[19]	F	ND	ND	ND	ND	A1768P	LG2	+/−^b	ND	+
P1	M	16y	+	−/−/+/+/−	+	L1176P	SEA	–	ND	–
P2	M	9y	+	−/−/+/+/−	+	R1698C	LG2	–	ND	+

M male, F female, y years old, AChEI acetylcholinesterase inhibitor, 3,4-DAP 3,4-diaminopyridine, ND not determined, ^aworsened during periods and pregnancy, P1 patient 1, P2 patient 2, chr1del large deletion covering entire AGRN gene, FS follistatin-like domain, ^bbeneficial response during the 1st month, but then symptoms aggravated