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.
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收藏
页码：500 / 504
页数：5
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