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
Ryr1 mutations in canadian subjects with malignant hyperthermia and central core disease
โ Scribed by Natasha Kraeva; Wanda Frodis; Mary Lou Crossan; K. Nolan; JCP Loke; DH MacLennan
- Publisher
- Springer-Verlag
- Year
- 2007
- Tongue
- French
- Weight
- 19 KB
- Volume
- 54
- Category
- Article
- ISSN
- 1496-8975
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๐ SIMILAR VOLUMES
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
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