Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature

Abstract The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant hyperthermia were first identified in 19...

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Bibliographic Details
Main Authors: Tokunbor A. Lawal, Joshua J. Todd, Jessica W. Witherspoon, Carsten G. Bönnemann, James J. Dowling, Susan L. Hamilton, Katherine G. Meilleur, Robert T. Dirksen
Format: Artigo
Language:Inglês
Published: BMC 2020-11-01
Series:Skeletal Muscle
Subjects:
Myopathy
Skeletal muscle
Clinical neurology
Ion channel defects
Neuromuscular disease
History
Online Access:http://link.springer.com/article/10.1186/s13395-020-00243-4
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