CHR2 encodes the alpha-1 subunit of the nicotinic acetylcholine receptor (nAChR), a ligand-gated ion channel essential for neuromuscular junction function. The protein forms part of acetylcholine-gated cation-selective channels that mediate signal transmission across the neuromuscular junction, enabling skeletal muscle contraction and neuromuscular synaptic transmission 1. CHR2 variants cause congenital myasthenic syndromes (CMS), including slow-channel and fast-channel subtypes, through impaired neuromuscular signal transmission 1. Additionally, CHR2 genetic polymorphisms represent risk factors for autoimmune myasthenia gravis (MG), where the rs35274388 variant in the promoter region associates with MG susceptibility, particularly late-onset disease 23. Genome-wide association studies confirmed CHR2 as a disease-associated locus in anti-acetylcholine receptor antibody-positive MG patients 3. Beyond neuromuscular disease, CHR2 upregulation characterizes primary focal hyperhidrosis pathogenesis. Silencing or antagonizing CHR2 reduces sweat secretion and attenuates sympathetic nervous system activation through decreased acetylcholine signaling 45. Clinically, CMS diagnosis requires electrophysiological confirmation and genetic testing, with treatment varying by pathomechanism; CHR2-related cases may respond differently to cholinesterase inhibitors compared to other CMS subtypes 1.