Table 1.

Summary of specific CMS-related mutant animal models that replicate aspects of disease phenotype.

CMS Disorder	CMS Subtype	Gene	Description	References
AChR-Deficiency	CMS4C	CHRNE, CHRNG	Expression of γ-AChR in ε-AChR knockout background generates weak mice with reduced endplate depolarisation but normal lifespan.	[3]
AChR-Slow channel kinetic	CMS4A, CMS1A, CMS3A	CHRNE, CHRNA1, CHRND	Expression of slow channel kinetic mutant AChR replicates prolongation of AChR current, muscle weakness, calcium overload and response to treatment.	[4,5,6,7,8,9,10,11,12]
MuSK	CMS9	MUSK	Hemizygous expression of V789M mutant in knockout background generates overtly weak mouse with defects of NMJ structure and neurotransmission.	[13]
Rapsyn	CMS11	RAPSN	Mutation within RING-domain of rapsyn inhibits E3-ligase activity, disrupts AChR cluster formation, motor nerve targeting and is perinatally lethal.	[14]
DOK7	CMS10	DOK7	Duplication mutation (c.1124_1127dupTGCC) disrupts NMJ formation and is perinatally lethal.Overexpression of DOK7 rescues phenotype.	[15]
Agrin	CMS8	AGRN	Chemically generated missense mutation causes NMJ degradation with decreased AChR density and reduced lifespan.	[16]