Malignant hyperthermia with R316C RYR1 novel missense mutation

被引：0

作者：

Kiatchai, Taniga ^{[1
]}

Ratanaphruthakul, Passorn ^{[1
]}

Poopipatpab, Sujaree ^{[2
]}

机构：

[1] Mahidol Univ, Siriraj Hosp, Fac Med, Dept Anesthesiol, Bangkok, Thailand

[2] Navamindradhiraj Univ, Vajira Hosp, Fac Med, Dept Anesthesiol, Bangkok, Thailand

来源：

关键词：

malignant hyperthermia; RYR1; mutation; ryanodine receptor;

D O I：

10.1111/pan.13704

中图分类号：

R614 [麻醉学];

学科分类号：

100217 ;

摘要：

引用

页码：968 / 969

页数：2

共 4 条

[1] Malignant E . Hyperthermia Group, DIAGNOSTIC MH MUTATI
[2] Pulnitiporn Aksorn, 2005, J Med Assoc Thai, V88 Suppl 7, pS149
[3] Updated guide for the management of malignant hyperthermia
Riazi, Sheila
Kraeva, Natalia
Hopkins, Philip M.
[J]. CANADIAN JOURNAL OF ANESTHESIA-JOURNAL CANADIEN D ANESTHESIE, 2018, 65 (06): : 709 - 721
[4] Mutations in RYR1 in malignant hyperthermia and central core disease
Robinson, Rachel
Carpenter, Danielle
Shaw, Marie-Anne
Halsall, Jane
Hopkins, Philip
[J]. HUMAN MUTATION, 2006, 27 (10) : 977 - 989