Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
CHRNA1 Cholinergic receptor, nicotinic, alpha polypeptide 1       | 2q24-q32 | * Myasthenic syndrome, congenital associated with acetylcholine receptor deficiency - (11.1, 11.5, 11.43)* Myasthenic syndrome, slow-channel congenital - SCCMS (11.1, 11.5, 11.43)* Myasthenic syndrome, congenital, 1A, Slow-channel - CMS1A (11.1, 11.5, 11.43)* Myasthenic syndrome, fast-channel congenital - FCCMS (11.1, 11.5, 11.43)* Myasthenic syndrome, congenital, 1B, Fast-channel - CMS1B (11.1, 11.5, 11.43) |