Article
Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor.
Proceedings of the National Academy of Sciences of the United States of America - 27 Mar 2001
Avila G, O'Brien J J, Dirksen R T
Abstract excerpt
Central core disease (CCD) is a human congenital myopathy characterized by fetal hypotonia and proximal muscle weakness that is linked to mutations in the gene encoding the type-1 ryanodine receptor (RyR1). CCD is thought to arise from Ca(2+)-induced damage stemming from mutant RyR1 proteins forming "leaky" sarcoplasmic reticulum (SR) Ca(2+) release channels. A novel mutation in the C-terminal region of RyR1...
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