Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation
β Scribed by Takahiro Tanabe; Makoto Fukusaki; Yoshiaki Terao; Kazunori Yamashita; Koji Sumikawa; Keiko Mukaida; Carlos A. Ibarra; Ichizo Nishino
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 151 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0913-8668
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Malignant hyperthermia (MH) is a genetic disorder of skeletal muscle in susceptible individuals that is triggered by exposure to anesthetic agents, and can cause death. Mutations in the ryanodine receptor type 1 gene (RYR1) are associated with MH-susceptibility. MH is also triggered in susceptible i
In swine, a point mutation in the ryanodine receptor gene can account for all cases of malignant hyperthermia (MH). The frequency of a corresponding mutation in humans (C1840-T) and its relationship to the in vitro contracture profile is unknown. We screened 192 patients from 28 unrelated northern G