Article
RYR1-Related Rhabdomyolysis: A Spectrum of Hypermetabolic States Due to Ryanodine Receptor Dysfunction.
Current pharmaceutical design - 1 Jan 2022
Kruijt Nick, den Bersselaar Luuk Van, Snoeck Marc, Kramers Kees, Riazi Sheila, Bongers Coen, Treves Susan, Jungbluth Heinz, Voermans Nicol
Abstract excerpt
Variants in the ryanodine receptor-1 gene (RYR1) have been associated with a wide range of neuromuscular conditions, including various congenital myopathies and malignant hyperthermia (MH). More recently, a number of RYR1 variants, mostly MH-associated, have been demonstrated to contribute to rhabdomyolysis events not directly related to anesthesia in otherwise healthy individuals. This review focuses on...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
