Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
โ Scribed by Quane, K. A.; Healy, J.M.S.; Keating, K. E.; Manning, B. M.; Couch, F. J.; Palmucci, L. M.; Doriguzzi, C.; Fagerlund, T. H.; Berg, K.; Ording, H.
- Book ID
- 109916896
- Publisher
- Nature Publishing Group
- Year
- 1993
- Tongue
- English
- Weight
- 625 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1061-4036
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Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that manifests in response to anesthetic triggering agents. Central core disease (CCD) is a myopathy closely associated with MH. Both MH and CCD are primarily disorders of calcium regulation in skeletal muscle. The ryanodin
The RYR1 gene encodes the skeletal muscle isoform ryanodine receptor and is fundamental to the process of excitation-contraction coupling and skeletal muscle calcium homeostasis. Mapping to chromosome 19q13.2, the gene comprises 106 exons and encodes a protein of 5,038 amino acids. Mutations in the