Congenital Myasthenic Syndrome
Watchlist
Retrieved
2021-01-23
Source
Trials
—
Genes
GFPT1,
AGRN,
SCN4A,
SLC18A3,
SLC5A7,
ALG2,
LRP4,
CHRND,
ALG14,
COLQ,
RAPSN,
DOK7,
GMPPB,
VAMP1,
DPAGT1,
MUSK,
COL13A1,
PLEC,
LAMB2,
PREPL,
SNAP25,
SYT2,
CHRNG,
CHRNB1,
CHRNE,
CHAT,
TAPBPL,
ACHE,
C17orf107,
CHRNA1
GFPT1,
AGRN,
SCN4A,
SLC18A3,
SLC5A7,
ALG2,
LRP4,
CHRND,
ALG14,
COLQ,
RAPSN,
DOK7,
GMPPB,
VAMP1,
DPAGT1,
MUSK,
COL13A1,
PLEC,
LAMB2,
PREPL,
SNAP25,
SYT2,
CHRNG,
CHRNB1,
CHRNE,
CHAT,
TAPBPL,
ACHE,
C17orf107,
CHRNA1,
CD2AP,
BCHE,
HNRNPH1,
HNRNPH2,
MYO9A,
DAP,
EIF3K,
SRSF1,
UTRN,
NGFR,
NTRK1,
CAV1,
SMN1,
SMN2,
DES,
ERBB3,
SEA,
CHD7,
LAMA5,
SEMA7A,
TPM3,
B3GAT1,
SLC25A1,
RPH3A,
VCP,
DNAJA3,
MACF1
Drugs
—
Registered!
Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.