Article
Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum.
The Journal of general physiology - 1 Jan 2011
Loy Ryan E, Orynbayev Murat, Xu Le, Andronache Zoita, Apostol Simona, Zvaritch Elena, MacLennan David H, Meissner Gerhard, Melzer Werner, Dirksen Robert T
Abstract excerpt
The type 1 isoform of the ryanodine receptor (RYR1) is the Ca(2+) release channel of the sarcoplasmic reticulum (SR) that is activated during skeletal muscle excitation-contraction (EC) coupling. Mutations in the RYR1 gene cause several rare inherited skeletal muscle disorders, including malignant hyperthermia and central core disease (CCD). The human RYR1(I4898T) mutation is one of the most common CCD mutations....
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