ACh	acetylcholine
AChE	acetylcholinesterase
AChR	acetylcholine receptor
ALG14	asparagine-linked glycosylation 14 homolog
ALG2	asparagine-linked glycosylation 2 homolog
AMC	arthrogryposis multiplex congenita
ASD	autism spectrum disorder
CaV1.1	L-type calcium channel
CDG	congenital disorder of glycosylation
ChAT	choline acetyltransferase
CHD8	chromatin helicase DNA binding protein 8
ChEI	cholinesterase inhibitor
ChT	high affinity choline transporter
CK	creatine kinase
CMAP	compound muscle action potential
CMS	congenital myasthenic syndromes
CNS	central nervous system
ColQ	collagen Q
CTD	C-terminal domain of ColQ
Ctgf	connective tissue growth factor
D2L2AD	combined D-2- and L-2-hydroxyglutaric aciduria
DHMN7A	autosomal dominant distal hereditary motor neuropathy type VIIA
DHPR	dihydropyridine receptor
Dok-7	docking protein 7
DPAGT1	dolichyl-phosphate N-acetylglucosamine phosphotransferase 1
EBS	epidermolysis bullosa simplex
EPP	endplate potential
EVMPS	Escobar variant of multiple pterygium syndrome
FADS	fetal akinesia deformation sequence
FCCMS	fast-channel congenital myasthenic syndrome
Fgf18	fibroblast growth factor 18
GAP	Rho GTPase-activating protein
GFPT1	glutamine--fructose-6-phosphate transaminase 1
GMPPB	GDP-mannose pyrophosphorylase B
HCS	hypotonia-cystinuria syndrome
HSP	heparan sulfate proteoglycan
HSPBD	HSP-binding domain
IBM	inclusion body myositis
IDDAM	intellectual developmental disorder with autism and macrocephaly
LAP1	lamin-associated protein 1
LEMS	Lambert-Eaton myasthenic syndrome
LGMD17	autosomal recessive limb-girdle muscular dystrophy 17
LMPS	lethal form of multiple pterygium syndrome
LRP4	low density lipoprotein receptor-related protein 4
MDDG	muscular dystrophy-dystroglycanopathy
MG	myasthenia gravis
MuSK	muscle-specific receptor tyrosine kinase
Myo9a	myosin 9A
NaV1.4	Skeletal muscle voltage-gated sodium channel
NCAM	neuronal cell adhesion molecule
NIPPV	non-invasive positive pressure ventilation
NMJ	neuromuscular junction
PRAD	proline-rich attachment domain
PREPL	propyl endopeptidase like
PURA	purine-rich element-binding protein A
R-CMAP	repetitive compound muscle action potential
RNS	repetitive nerve stimulation
Rspo2	R-spondin 2
RyR	ryanodine receptor
SCCMS	slow-schannel congenital myasthenic syndrome
SFEMG	single-fiber electromyography
SIDS	sudden infantile death syndrome
SNARE	soluble NSF attachment protein receptor
SNV	single nucleotide variant
SOST2	sclerosteosis type 2
SR	sarcoplasmic reticulum
SSRI	selective serotonin reuptake inhibitor
SV2A	synaptic vesicle glycoprotein 2A
UDP-GlcNAc	uridine diphosphate N-acetylglucosamine
vAChT	vesicular acetylcholine transporter
VAMP1	vesicle-associated membrane protein 1
VGCC	voltage-gated calcium channel