Table 3.

Congenital Myasthenic Syndromes: Mode of Inheritance

MOICMS-Related Genes
AR AGRN
ALG2
ALG14
CHAT
COL13A1
COLQ
DES
DOK7
DPAGT1
GFPT1
GMPPB
LAMA5
LAMB2
LRP4
MACF1
MUSK
MYO9A
PLEC
PREPL
RAPSN
RPH3A
SCN4A
SLC5A7
SLC18A3
SLC25A1
TOR1AIP1
UNC13A
VAMP1
AD CHD8 SNAP25
AD or AR CHRNA1 1CHRNB1 1CHRND 1CHRNE 1SYT2 2
1.

Heterozygous gain-of-function variants result in autosomal dominant slow-channel CMS. Biallelic loss-of-function variants result in autosomal recessive CMS.

2.

Heterozygous missense variants result in autosomal dominant CMS. Biallelic loss-of-function variants result in autosomal recessive CMS.

From: Congenital Myasthenic Syndromes Overview

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