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
No C1840 to T mutation in RYR1 in malignant hyperthermia
β Scribed by Julie L. Hall-Curran; Alistair D. Stewart; Sarah P. Ball; Jane P. Halsall; Philip M. Hopkins; F. Richard Ellis
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 76 KB
- Volume
- 2
- Category
- Article
- ISSN
- 1059-7794
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Malignant hyperthermia (MH) is a dominantly inherited pharmacogenetic condition that manifests as a life-threatening hypermetabolic reaction when a susceptible individual is exposed to common volatile anesthetics and depolarizing muscle relaxants. Although MH appears to be genetically heterogeneous,
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