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Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990–2019

BACKGROUND: Pathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH) susceptibility, a life-threatening hypermetabolic condition and RYR1-related myopathies (RYR1-RM), a spectrum of rare neuromuscular disorders. In RYR1-...

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Detalles Bibliográficos
Autores principales: Lawal, Tokunbor A., Wires, Emily S., Terry, Nancy L., Dowling, James J., Todd, Joshua J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7204063/
https://www.ncbi.nlm.nih.gov/pubmed/32381029
http://dx.doi.org/10.1186/s13023-020-01384-x