Article
Calcitonin gene-related peptide restores disrupted excitation-contraction coupling in myotubes expressing central core disease mutations in RyR1.
The Journal of physiology - 1 Oct 2011
Vega Ana Victoria, Ramos-Mondragón Roberto, Calderón-Rivera Aida, Zarain-Herzberg Angel, Avila Guillermo
Abstract excerpt
Central core disease (CCD) is a congenital human myopathy associated with mutations in the gene encoding the skeletal muscle ryanodine receptor (RyR1), resulting in skeletal muscle weakness and lower limb deformities. The muscle weakness can be at least partially explained by a reduced magnitude of voltage-gated Ca(2+) release (VGCR). To date, only a few studies have focused on identifying potential therapeutic...
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