RAPSN and congenital myasthenic syndrome: p.R164C (c.490C>T) [118, 130], p.R164H (c.491G>A) [131], p.V165M (c.493G>A) [86, 108, 115, 116, 132], and p.A189V (c.566C>T) [127] in Rapsyn TPR5 domain are the common missense mutations causing CMS, which does not hider Rapsyn self-association, but diminishes co-clustering of Rapsyn with AChR.