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

From: Congenital myasthenic syndromes

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