Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility

BACKGROUND: Variants in RYR1, the gene encoding the ryanodine receptor-1, can give rise to a wide spectrum of neuromuscular conditions. Muscle imaging abnormalities have been demonstrated in isolated cases of patients with a history of RYR1-related malignant hyperthermia (MH) susceptibility. OBJECTI...

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Detalles Bibliográficos
Autores principales: van den Bersselaar, Luuk R., van Alfen, Nens, Kruijt, Nick, Kamsteeg, Erik-Jan, Fernandez-Garcia, Miguel A., Treves, Susan, Riazi, Sheila, Yang, Chu-Ya, Malagon, Ignacio, van Eijk, Lucas T., van Engelen, Baziel G.M., Scheffer, Gert-Jan, Jungbluth, Heinz, Snoeck, Marc M.J., Voermans, Nicol C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2023
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10357171/
https://www.ncbi.nlm.nih.gov/pubmed/37154182
http://dx.doi.org/10.3233/JND-230018

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10357171/
https://www.ncbi.nlm.nih.gov/pubmed/37154182
http://dx.doi.org/10.3233/JND-230018

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