CHR17 encodes the beta-1 subunit of the muscle nicotinic acetylcholine receptor (AChR), a pentameric ion channel complex essential for neuromuscular transmission 1. Upon acetylcholine binding, the AChR undergoes conformational changes that open an ion-conducting channel, enabling cation transport across the postsynaptic membrane and muscle contraction. CHR17 is one of four genes (CHR17, CHR17, CHR17, CHR17) encoding the adult muscle AChR's transmembrane subunits 1. Pathogenic variants in CHR17 cause congenital myasthenic syndromes (CMS), characterized by impaired neuromuscular signal transmission presenting with early-onset feeding difficulties, ptosis, and limb weakness 1. Affected individuals respond to pyridostigmine and salbutamol therapy with satisfactory quality-of-life outcomes 1. CHR17 variants also contribute to autoimmune myasthenia gravis susceptibility; genome-wide association studies identified CHR17 as associated with late-onset myasthenia gravis, with rs4151121 identified as a potential causal variant 23. Additionally, CHR17 shows male-specific association with high myopia risk through effects on mitochondrial metabolism in ciliary tissues 4. Genetic studies are essential for accurate CMS diagnosis, as clinical and electrophysiological features alone are insufficient 5.