Article
Novel regulators of RyR Ca2+ release channels: insight into molecular changes in genetically-linked myopathies.
Journal of muscle research and cell motility - 1 Jan 2006
Dulhunty A F, Beard N A, Pouliquin P, Kimura T
Abstract excerpt
There are many mutations in the ryanodine receptor (RyR) Ca2+ release channel that are implicated in skeletal muscle disorders and cardiac arrhythmias. More than 80 mutations in the skeletal RyR1 have been identified and linked to malignant hyperthermia, central core disease or multi-minicore disease, while more than 40 mutations in the cardiac RyR2 lead to ventricular arrhythmias and sudden cardiac death in...
Topics
- Amino Acid Sequence
- Animals
- Arrhythmias, Cardiac
- Calcium
- Calsequestrin
- Homeostasis
- Humans
- Molecular Sequence Data
- Muscle Cells
- Muscular Diseases
- Mutation
- Peptides
- Protein Binding
- Protein Structure, Tertiary
- Ryanodine Receptor Calcium Release Channel
