Myopathy With Exercise‐Induced Intolerance due to Novel Biallelic Variants in OBSCN —A Clinical, Morphological and Molecular Analysis

Neuropathology and Applied Neurobiology 2026 Open access

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Authors: Heidrun H. Krämer-Best, Marlen Colleen Reis, Andreas Hentschel, Michaela Weiß, Alexander Schaiter, Klaus-Dieter Böhm, Andreas Roos, Dagmar Nolte, Anne Schänzer
DOI: 10.1111/nan.70065
Cited by: 0
References: 14

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.

Fields of Study & Subjects

Muscle Physiology and Disorders Genomics and Rare Diseases Cardiomyopathy and Myosin Studies

Publication details

Journal / source
Neuropathology and Applied Neurobiology
Volume
52
Issue
1
Pages
e70065–e70065
Publication date
1 February 2026
Language
EN