TOR1AIP1 encodes LAP1, a nuclear envelope protein essential for nuclear membrane integrity and organization of the nuclear lamina 1. LAP1 functions as an ATPase activator for TOR1A and TOR1B proteins, facilitating their localization to the nuclear membrane, and interacts with A- and B-type lamins to support membrane attachment and nuclear lamina assembly 1. Disruption of TOR1AIP1 causes diverse disease phenotypes classified as nuclear envelopathies. LAP1B-specific mutations result in progressive skeletal muscle disease characterized by childhood-onset weakness and contractures 2, while mutations affecting both LAP1B and LAP1C isoforms produce syndromic disorders affecting skeletal muscle, brain, eyes, ears, skin, and bones 2. TOR1AIP1 mutations have been identified in congenital myasthenic syndrome (CMS), a condition characterized by defective neuromuscular signal transmission 34. Additionally, TOR1AIP1 demonstrates involvement in coronary artery gene regulation through splicing quantitative trait loci, indicating broader relevance to vascular disease 5. Given the availability of rational therapies for most CMS forms, genetic identification of TOR1AIP1 variants is clinically important for accurate diagnosis and therapeutic intervention 4.