MYOT encodes myotilin, a structural protein that serves as a component of actin cross-linking protein complexes involved in myofibril assembly and stability at the Z-lines in muscle cells 1. Myotilin functions as a Z-disc protein that maintains the structural integrity of muscle fibers through protein-protein interactions 2. Mutations in MYOT cause autosomal dominant myofibrillar myopathy (MFM), a hereditary neuromuscular disorder characterized by progressive muscle weakness that can manifest as distal myopathy affecting hands and feet, but may also involve proximal muscles and the heart 13. The disease typically presents in adulthood with slowly progressive weakness and is pathologically characterized by Z-disk alterations, myofibril disorganization, and abnormal protein aggregation 24. MYOT mutations result in the accumulation of degraded myofibrillar proteins forming large aggregates, though the exact mechanism by which mutated myotilin leads to protein aggregation remains unclear 25. Clinically, myotilinopathy represents part of the broader spectrum of myofibrillar myopathies caused by mutations in Z-disk-related proteins, contributing to the genetic heterogeneity of distal myopathies 67.