DOK7 is a muscle-intrinsic protein that plays an essential role in neuromuscular junction development and function. DOK7 acts as an activator of muscle-specific kinase (MUSK), inducing its autophosphorylation and subsequent acetylcholine receptor clustering in muscle fibers, which is crucial for proper neuromuscular synaptogenesis 1. The protein functions in the signaling pathway that controls formation and maintenance of neuromuscular synapses through coordinated interactions between motor neurons, skeletal muscle cells, and Schwann cells 1. Mutations in DOK7 cause congenital myasthenic syndrome type 10, a neuromuscular disorder characterized by impaired neuromuscular transmission 23. DOK7 is among the most common causative genes for congenital myasthenic syndromes, typically presenting with limb-girdle weakness 24. DOK7-related congenital myasthenia often shows a progressive course, with patients having higher rates of intensive care unit admissions (38.6%) and some requiring ventilation or wheelchair use in adulthood 4. The condition affects neuromuscular junction function and can lead to muscle weakness and fatigue, but often responds favorably to treatments that enhance neuromuscular transmission 25.