Congenital myasthenic syndromes

Table 1 First reports of mutations in any of the 32 CMS genes [142]

Gene	Year of first report	NOPR#	Reference for 1st description
COLQ	1998	> 115	[136]
CHRNE	2000	97	[60]
CHAT	2001	46	[5]
SCN4A	2003	3	[96]
RAPSN	2003	84	[137]
MUSK	2004	9	[138]
CHRND	2006	4	[58]
CHRNG	2006	17	[68]
DOK7	2006	> 50	[139]
CHRNA1	2008	6	[54]
LAMB2	2009	1	[49]
AGRN	2009	12	[140]
CHRNB1	2010	3	[10]
PLEC1	2010	3	[104]
GFPT1	2011	29	[141]
DPAGT1	2012	12	[124]
ALG2	2013	5 + 1 family	[108, 122]
ALG14	2013	7	[108]
LRP4	2014	3	[90, 92]
PREPL	2014	1	[93]
SNAP25	2014	1	[30]
SYT2	2014	2 families	[33]
SLC25A1	2014	3	[107]
COL13A1	2015	3	[52]
GMPPB	2015	13	[109]
SLC18A3	2016	3 families	[29]
SLC5A7	2016	7 families	[21]
MYO9A	2016	3	[86]
MUNC13–1	2016	1	[36]
VAMP1	2017	4	[31]
LAMA5	2017	1	[51]
SYB1	2017	1	[7]

NOPR: number of patients/families reported so far, #: since first description (some figures may be imprecise since reporting of patients may overlap between publications)

ISSN: 1750-1172