Rhabdomyolysis associated with OBSCN mutations: case report and mechanistic review.

Rhabdomyolysis is characterized by acute myofiber breakdown and a rapid rise in serum creatine kinase levels, typically triggered by external factors, with genetic susceptibility contributing in some cases. Obscurin, a giant protein encoded by the OBSCN gene, is essential for maintaining muscle fibers structural integrity and function. Recent studies have linked OBSCN variants to rhabdomyolysis, although the underlying mechanisms remain unclear. We report a young adult male with recurrent episodes of muscle pain and cramping, in whom genetic testing identified two heterozygous OBSCN variants (c.20292C>A and c.708del). This case provides clinical evidence supporting the pathogenic role of OBSCN mutations in rhabdomyolysis. Additionally, we review the molecular functions of OBSCN and highlight the need for further research to clarify the pathogenic mechanisms underlying OBSCN-related rhabdomyolysis.