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)