Malignant hyperthermia associated with a typical central core disease
โ Scribed by Satoshi Akazawa; Reiju Shimizu; Haruyuki Kasuda; Shinichi Nakao; Terutoshi Nakamigawa
- Publisher
- Springer
- Year
- 1987
- Tongue
- English
- Weight
- 527 KB
- Volume
- 1
- Category
- Article
- ISSN
- 0913-8668
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
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
Malignant hyperthermia (MH) and central core disease (CCD) are autosomal dominant disorders of skeletal muscle. Susceptibility to MH is only apparent after exposure to volatile anesthetics and/or depolarizing muscle relaxants. CCD patients present with diffuse muscular weakness but are also at risk