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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-...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Orphanet J Rare Dis
Päätekijät: Lawal, Tokunbor A., Wires, Emily S., Terry, Nancy L., Dowling, James J., Todd, Joshua J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2020
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7204063/
https://ncbi.nlm.nih.gov/pubmed/32381029
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01384-x
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