Population
Myotubes derived from RyR1-knockout (dyspedic) mice
Comparison
Expression of engineered rabbit RyR1 cDNA with… vs Wild-type RyR1 proteins
Design
Preclinical
Authors
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Does not support clinical translation in cardiology; leaves open extension to cardiac RyR2 dysfunction.
CCD mutations in the NH2-terminal region of RyR1 cause muscle weakness by increasing SR Ca2+ leak and reducing voltage-gated Ca2+ release.
Ávila et al. (2001) studied this question.
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