Myopathy With Exercise‐Induced Intolerance due to Novel Biallelic Variants in OBSCN —A Clinical, Morphological and Molecular Analysis
Year: 2026
Type: article
Abstract: 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.
DOI: 10.1111/nan.70065
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $4,480
OpenAlex ID: W7128040245