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Myopathy With Exercise-Induced Intolerance due to Novel Biallelic Variants in OBSCN-A Clinical, Morphological and
Heidrun H Krämer-Best1,2, Marlen C Reis3, Andreas Hentschel4
1Department of Neurology, Justus-Liebig-University Giessen, Giessen, Germany.
Abstract:
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 Ca2+ regulation, extrasarcolemmal integrity and autophagy emphasised the critical role of obscurin in skeletal muscle function.
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