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
Central core disease and malignant hyperthermia syndrome
β Scribed by John P. Frank; Yadollah Harati; Dr. Ian J. Butler; Thomas E. Nelson; Charles I. Scott
- Publisher
- John Wiley and Sons
- Year
- 1980
- Tongue
- English
- Weight
- 792 KB
- Volume
- 7
- Category
- Article
- ISSN
- 0364-5134
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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
## Abstract A 14βyearβold boy, an only child, with the phenotypical dysmorphic features of the KingβDenborough Syndrome developed a severe hyperthermic episode during anesthesia which responded to the administration of sodium dantrolene. As adequate metabolic studies were not available at the time