Malignant hyperthermia in infancy and identification of novel RYR1 mutation

被引：38

作者：

Chamley, D

Pollock, NA ^{[1
]}

Stowell, KM

Brown, RL

机构：

[1] Palmerston N Hosp, Dept Anaesthesia, Palmerston North, New Zealand

[2] Middlemore Hosp, Dept Anaesthesia, Auckland 6, New Zealand

[3] Massey Univ, Inst Mol BioSci, Palmerston North, New Zealand

来源：

BRITISH JOURNAL OF ANAESTHESIA | 2000年 / 84卷 / 04期

关键词：

genetic factors; hyperthermia; metabolism;

D O I：

10.1093/oxfordjournals.bja.a013478

中图分类号：

R614 [麻醉学];

学科分类号：

100217 ;

摘要：

Malignant hyperthermia (MH) has been reported as non-existent in children less than 1 yr old, although several unconfirmed reports have been published. A case report of MH in a 6-month-old child is presented, with confirmation of MH susceptibility by in vitro contracture testing of quadriceps muscle at 13 yr old. Genetic analysis revealed a novel RYRI mutation that substitutes arginine 2452 for tryptophan in a region of the calcium channel mutated in several other MH pedigrees.

引用

页码：500 / 504

页数：5