Biallelic OBSCN variants cause exercise-induced myopathy with intolerance, myotonic discharges, core-like lesions, and altered Ca2+ handling proteins.
Novel biallelic variants in OBSCN cause a myopathy characterized by exercise intolerance, linked to dysregulated calcium handling and cytoskeletal proteins.
Tasa de eventos absoluta: 0% vs 0%
Summary The phenotype of OBSCN variants consists of exercise intolerance ranging from myalgia and cramps to rhabdomyolysis. The symptoms are mainly induced by high‐intensity sports. Two previously undescribed OBSCN variants have been identified as being associated with exercise intolerance, myotonic discharges and core‐like lesions in the muscle biopsy. Proteomic analysis of skeletal muscle reveals that the pathogenicity of the OBSCN variants is associated with dysregulated proteins that control Ca 2+ handling and the extrasarcomeric cytoskeleton.
Krämer‐Best et al. (Sun,) reported a other. Biallelic OBSCN variants cause exercise-induced myopathy with intolerance, myotonic discharges, core-like lesions, and altered Ca2+ handling proteins.