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 | + |