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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...

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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
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