๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

โœ 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

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Ryanodine receptor mutations in malignan
โœ Tommie V. McCarthy; Kathleen A. Quane; Patrick J. Lynch ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 259 KB ๐Ÿ‘ 2 views

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

Mutations in RYR1 in malignant hyperther
โœ Rachel Robinson; Danielle Carpenter; Marie-Anne Shaw; Jane Halsall; Philip Hopki ๐Ÿ“‚ Article ๐Ÿ“… 2006 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 531 KB

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