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From recurrent rhabdomyolysis in a young adult to carnitine palmitoyltransferase II deficiency
Metabolic myopathies are a diverse group of rare genetic disorders associated with recurrent episodes of rhabdomyolysis, induced by triggers such as fever or exercise. In these disorders, the energetic metabolism is compromised resulting in damage of the muscle cells. The diagnosis can be challengin...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
UMF “Gr. T. Popa” Iasi Publishing House
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10088049/ https://www.ncbi.nlm.nih.gov/pubmed/37056952 http://dx.doi.org/10.22551/2023.38.1001.10238 |