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slow-channel congenital myasthenic syndromes

MIM.601462

Monday 4 February 2008

Postsynaptic slow-channel congenital myasthenic syndrome (SCCMS) are a sybtypes of congenital myasthenic syndromes.

They can be caused by mutation in the genes encoding subunits of the acetylcholine receptor (AChR):

- alpha (CHRNA1) (MIM.100690)
- beta (CHRNB1) (MIM.100710)
- delta (CHRND) (MIM.100720)
- epsilon (CHRNE) (MIM.100725)

Gain-of-function mutations are the most common cause of SCCMS.