CHRNACholinergic Receptor, Neuronal Nicotinic, Alpha
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A pathological gain of function of AChR located in the postsynaptic membrane has been observed in SCCMS,[sup][4] which was caused by mutations in the AChR alpha-subunit ( CHRNA ) gene and CHRNE gene.[sup][6] However, mutations of the CHRNE gene can also lead to the fast-channel variation of CSM.[sup][14] The clinical phenotype can range from mild to severe and vary among SCCMS patients with different mutations and even among patients with the same mutation.[sup][15],[16]