作者
Tommie V McCarthy, JM Sandra Healy, James JA Heffron, Mary Lehane, Thomas Deufel, Frank Lehmann-Horn, Martin Farrall, Keith Johnson
发表日期
1990/2/8
期刊
Nature
卷号
343
期号
6258
页码范围
562-564
出版商
Nature Publishing Group UK
简介
MALIGNANT hyperthermia (MH) is an inherited human skeletal muscle disorder and is one of the main causes of death due to anaesthesia1. The reported incidence of MH varies from 1 in 12,000 in children to 1 in 40,000 in adults2,3. MH is triggered in susceptible people by all commonly used inhalational anaesthetics; it is characterized by a profoundly accelerated muscle metabolism, contractures, hyperthermia and tachycardia1,4,5. Susceptibility to MH (MHS) is predicted by contracture tests on muscle tissue obtained by biopsy6,7. An almost identical disorder known as porcine MH exists in pigs8,9. The genetics of the porcine syndrome have been extensively studied10; the locus controlling expression of porcine MH is genetically linked to the glucose phosphate isomerase locus (GPI)11. In man, GPI has been mapped to the q12–13.2 region of chromosome 19 (refs 10–12). We have now investigated genetic …
引用总数
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