CHR2 encodes the gamma subunit of the nicotinic acetylcholine receptor (AChR), a critical component of the postsynaptic apparatus at the neuromuscular junction. Upon acetylcholine binding, CHR2 participates in the conformational change of the AChR that opens an ion-conducting channel, enabling membrane depolarization and skeletal muscle contraction through monoatomic cation transport 1. The gamma subunit is specifically expressed during fetal muscle development and is essential for proper neuromuscular junction formation and prenatal neuromuscular signal transduction 2. Pathogenic CHR2 variants cause autosomal recessive congenital myasthenic syndromes and multiple pterygium syndrome (MPS), including the Escobar variant 13. CHR2-related nonlethal MPS presents with distinctive phenotypes featuring multiple congenital contractures, pterygium, and facial dysmorphism alongside characteristic muscle pathology including reduced muscle bulk and selective fatty infiltration 3. Mutations predominantly localize to the extracellular domain 3. At the histological level, CHR2 mutations disrupt normal neuromuscular junction organization, resulting in aberrant spatial distribution of acetylcholine receptors relative to acetylcholinesterase, reflecting impaired synaptogenesis 2. Clinically, CHR2 represents one of the most frequently implicated genes in neuromuscular arthrogryposis multiplex congenita, accounting for approximately 10.9% of genetically resolved cases in recent cohorts 4. The disorder demonstrates a stable clinical course over time, making it distinguishable from other arthrogryposis entities 3.