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Table 1 Clinical features of reported AGRN-mutant CMS

From: Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome

Reports Gender Onset Fluctuation Clinical forms RNS Mutations Affected domain Response to Treatment
Ocular/Facial/Proximal/Distal/Respiratory (3 Hz) AChEI 3,4-DAP β2-receptor agonist
2009 [15] F Early childhood +a +/+/+/+/ND + G1709R LG2 +
G1709R
2009 [15] M Early childhood + +/ND/+/ND/ND + G1709R LG2 + +
G1709R
2012 [17] F Early childhood + +/+/+/+/+ + V1727F LG2 +
Q353X FS
2014[16] F 15y −/−/+/+/ND + G76S NtA ND ND
chr1del chr1del
2014[16] M 15y −/−/−/+/ND + G76S NtA ND ND
chr1del chr1del
2014[16] M 2y + −/−/+/+/− + N105I NtA +
S455Q FS
2014[16] F At birth + −/+/ND/+/− + N105I NtA +
S455Q FS
2014[16] M 5y +/ND/+/+/ND + G1871R LG3 ND ND +
G1871R
2017 [18] M 1.5y ND +/ND/+/−/ND + G1675S LG2 + ND +
G1675S
2017[19] M 21y + −/−/+/+/− + A1768P LG2 +/−b ND +
A1768P
2017[19] F 7y ND −/−/+/+/− ND A1768P LG2 +/−b ND +
A1768P
2017[19] F ND ND ND ND A1768P LG2 +/−b ND +
A1768P
P1 M 16y + −/−/+/+/− + L1176P SEA ND
P2 M 9y + −/−/+/+/− + R1698C LG2 ND +
  1. 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