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The neuromuscular and multisystem features of RYR1-related malignant hyperthermia and rhabdomyolysis: A study protocol
INTRODUCTION: Malignant hyperthermia (MH) and exertional rhabdomyolysis (ERM) have long been considered episodic phenotypes occurring in response to external triggers in otherwise healthy individuals with variants in RYR1. However, recent studies have demonstrated a clinical and histopathological co...
Autores principales: | van den Bersselaar, Luuk R., Kruijt, Nick, Scheffer, Gert-Jan, van Eijk, Lucas, Malagon, Ignacio, Buckens, Stan, Custers, José AE, Helder, Leonie, Greco, Anna, Joosten, Leo AB, van Engelen, Baziel GM, van Alfen, Nens, Riazi, Sheila, Treves, Susan, Jungbluth, Heinz, Snoeck, Marc MJ, Voermans, Nicol C. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8376301/ https://www.ncbi.nlm.nih.gov/pubmed/34414986 http://dx.doi.org/10.1097/MD.0000000000026999 |
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