Population
HEK-293 cells expressing rabbit RYR1 cDNA and DNA from a large Mexican kindred with severe central core…
Comparison
Expression of I4898T mutant RYR1 cDNA vs Expression of normal RYR1 cDNA
Design
Preclinical
Authors
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No immediate clinical implications for central core disease; hypothesis-generating for RYR1-targeted therapies in humans.
The I4898T mutation in the RyR1 protein creates a leaky Ca2+ channel, providing a mechanistic explanation for the severe phenotype of central core disease in affected individuals.
Lynch et al. (1999) studied this question.
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