Article
Distinct mechanisms for dysfunctions of mutated ryanodine receptor isoforms.
Biochemical and biophysical research communications - 25 Apr 2008
Ogawa Yasuo
Abstract excerpt
Ryanodine receptor (RyR) is the Ca(2+)-induced Ca(2+) release channel in cells. RyR1 and RyR2 are its isoforms expressed in the skeletal and cardiac muscles, respectively. Their missense mutations, which are clustered in three regions that correspond to each other, cause hereditary disorders such as malignant hyperthermia and central core disease in skeletal muscle and catecholaminergic polymorphic ventricular...
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