Article
Characterization of excitation-contraction coupling components in human extraocular muscles.
The Biochemical journal - 15 Feb 2015
Sekulic-Jablanovic Marijana, Palmowski-Wolfe Anja, Zorzato Francesco, Treves Susan
Abstract excerpt
Excitation-contraction coupling (ECC) is the physiological mechanism whereby an electrical signal detected by the dihydropyridine receptor, is converted into an increase in [Ca2+], via activation of ryanodine receptors (RyRs). Mutations in RYR1, the gene encoding RyR1, are the underlying cause of various congenital myopathies including central core disease, multiminicore disease (MmD), some forms of centronuclear...
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