Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept

被引：104

作者：

Riazi, Sheila ^{[1
]}

Kraeva, Natalia ^{[1
]}

Hopkins, Philip M. ^{[2
]}

机构：

[1] Univ Toronto, Dept Anesthesia, Toronto, ON, Canada

[2] Univ Leeds, Dept Anaesthesia, Leeds, W Yorkshire, England

来源：

ANESTHESIOLOGY | 2018年 / 128卷 / 01期

基金：

美国国家卫生研究院;

关键词：

RECEPTOR-TYPE; 1; MULTIPLE PTERYGIUM SYNDROME; RYANODINE RECEPTOR; SKELETAL-MUSCLE; RYR1; MUTATION; CONGENITAL MYOPATHY; EXERTIONAL RHABDOMYOLYSIS; CA2+ RELEASE; INCIDENTAL FINDINGS; DISEASE MUTATIONS;

D O I：

10.1097/ALN.0000000000001878

中图分类号：

R614 [麻醉学];

学科分类号：

100217 ;

摘要：

This article reviews advancements in the genetics of malignant hyperthermia, new technologies and approaches for its diagnosis, and the existing limitations of genetic testing for malignant hyperthermia. It also reviews the various RYR1-related disorders and phenotypes, such as myopathies, exertional rhabdomyolysis, and bleeding disorders, and examines the connection between these disorders and malignant hyperthermia.

引用

页码：168 / 180

页数：13

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