Examining the Novel Nonsense Variant of the TANGO2 Gene in a Child With Rhabdomyolysis: Diagnostic Insights
Background: Rhabdomyolysis is characterized by the breakdown of muscle fibers, with serum creatine phosphokinase (CPK) serving as the key diagnostic marker. In pediatric cases, it is often linked to viral infections or trauma, but genetic causes like TANGO2 mutations may be suspected when triggers a...
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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Mazandaran University of Medical Sciences
2025-04-01
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| coleção: | Journal of Pediatrics Review |
| Assuntos: | |
| Acesso em linha: | http://jpr.mazums.ac.ir/article-1-709-en.pdf |
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