Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis

Exertional rhabdomyolysis is a metabolic event characterized by the release of muscle content into the circulation due to exercise-driven breakdown of skeletal muscle. Recurrent exertional rhabdomyolysis has been associated with metabolic myopathies and mitochondrial disorders, a clinically and gene...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Mol Genet Metab Rep
Main Authors: Sambuughin, Nyamkhishig, Mungunsukh, Ognoon, Ren, Mingqiang, Capacchione, John F., Horkayne-Szakaly, Iren, Chuang, Kevin, Muldoon, Sheila M., Smith, Jonathan K., O'Connor, Francis G., Deuster, Patricia A.
פורמט: Artigo
שפה:Inglês
יצא לאור: Elsevier 2018
נושאים:
Research Paper
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC6072915/
https://ncbi.nlm.nih.gov/pubmed/30094188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.07.007
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