Myopathy With Exercise‐Induced Intolerance due to Novel Biallelic Variants in <i>OBSCN</i> —A Clinical, Morphological and Molecular Analysis
The phenotype of OBSCN variants consists of exercise intolerance ranging from myalgia and cramps to rhabdomyolysis. Symptoms are mainly induced by high-intensity sports. Molecular analysis showing a deregulation of muscle processes associated with Ca<sup>2+</sup> regulation, extrasarcolemmal integrity and autophagy emphasised the critical role of obscurin in skeletal muscle function.
Authors
- Anne Schänzer (ORCID: https://orcid.org/0000-0002-2014-2028)
- Alexander Schaiter
- Marlen Colleen Reis
- Dagmar Nolte (ORCID: https://orcid.org/0000-0001-5710-8790)
- Andreas Roos
- Heidrun H. Krämer‐Best
- Klaus‐Dieter Böhm
- Michaela Weiß
Institutions
- Justus-Liebig-Universität Gießen (DE)
- Children's Hospital of Eastern Ontario (CA)
- Düsseldorf University Hospital (DE)
- Leibniz Institute for Analytical Sciences - ISAS (DE)
- Heinrich Heine University Düsseldorf (DE)
- University of Duisburg-Essen (DE)
- B. Braun (Netherlands) (NL)
Publication Details
- Journal
- Neuropathology and Applied Neurobiology
- Published
- 2026-02-01
- DOI
- https://doi.org/10.1111/nan.70065
- Primary Topic
- Cardiomyopathy and Myosin Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Deutsche Gesellschaft für Muskelkranke
- European Regional Development Fund