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

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

Abstract 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....

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Bibliographic Details
Main Authors: Tokunbor A. Lawal, Emily S. Wires, Nancy L. Terry, James J. Dowling, Joshua J. Todd
Format: Article
Language:English
Published: BMC 2020-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Ryanodine receptor
RYR1
Congenital myopathy
Central core disease
Preclinical
Mouse
Online Access:http://link.springer.com/article/10.1186/s13023-020-01384-x

Internet

http://link.springer.com/article/10.1186/s13023-020-01384-x

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