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：
PEDIATRIC ANESTHESIA | 2019年 / 29卷 / 09期
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
收藏
页码：968 / 969
页数：2
相关论文
共 50 条
  • [31] MALIGNANT HYPERTHERMIA-ASSOCIATED MUTATION OF LEAKY RYR1 INDUCES MITOCHONDRIAL DAMAGE IN THE HEART
    O-Uchi, J.
    Mishra, J.
    Jhun, B. S.
    Sheu, S.
    JOURNAL OF INVESTIGATIVE MEDICINE, 2017, 65 (04) : 809 - 809
  • [32] Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis
    Wenhe Li
    Lin Zhang
    Yue Liang
    Fang Tong
    Yiwu Zhou
    Forensic Science, Medicine and Pathology, 2017, 13 : 444 - 449
  • [33] A RYR1 MUTATION ASSOCIATED WITH RECESSIVE CONGENITAL MYOPATHY AND DOMINANT MALIGNANT HYPERTHERMIA IN ASIAN FAMILIES
    Carpenter, Danielle
    Ismail, Azzam
    Robinson, Rachel L.
    Ringrose, Christopher
    Booms, Patrick
    Iles, David E.
    Halsall, P. Jane
    Steele, Derek
    Shaw, Marie-Anne
    Hopkins, Philip M.
    MUSCLE & NERVE, 2009, 40 (04) : 633 - 639
  • [34] PREDICTORS OF PENETRANCE OF RYR1 MUTATIONS CAUSING MALIGNANT HYPERTHERMIA
    Riazi, Sheila
    Hu, Sally
    Schuster, Frank
    Kraeva, Natalia
    Johannsen, Stephan
    Rueffert, Henrik
    Klingler, Werner
    Heytens, Luc
    ANESTHESIA AND ANALGESIA, 2018, 126 (04): : 77 - 78
  • [35] Malignant hyperthermia - A large kindred linked to the RYR1 gene
    Wallace, AJ
    Wooldridge, W
    Kingston, IIM
    Harrison, MJ
    Ellis, FR
    Ford, PM
    ANAESTHESIA, 1996, 51 (01) : 16 - 23
  • [36] Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia
    Schiemann, A. H.
    Stowell, K. M.
    BRITISH JOURNAL OF ANAESTHESIA, 2016, 117 (01) : 124 - 128
  • [37] A SIMPLE METHOD TO DETECT THE RYR1 MUTATION G1021A, A CAUSE OF MALIGNANT HYPERTHERMIA SUSCEPTIBILITY
    ALESTROM, A
    FAGERLUND, TH
    BERG, K
    CLINICAL GENETICS, 1995, 47 (05) : 274 - 275
  • [38] A novel RYR1 mutation Q474H identified in a Japanese pedigree with malignant hyperthermia and central core disease
    Ogata, K
    Jeong, SY
    Takahashi, Y
    Yoshimura, M
    Shimizu, J
    Ichihara, Y
    Kikuchi, H
    Goto, J
    Kanazawa, I
    Nonaka, I
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2002, 199 : S106 - S106
  • [39] Downstream Effects of a RyR1 Mutation Linked to Malignant Hyperthermia on the Phenotypic and Functional Characteristic of Dendritic Cells
    Vukcevic, Mirko
    Zorzato, Francesco
    Treves, Susan
    BIOPHYSICAL JOURNAL, 2012, 102 (03) : 307A - 307A
  • [40] RyR1 Mutation Associated with Malignant Hyperthermia Induces Cardiac Arrythmia via Mitochondrial Calcium Overload
    Adhikari, Neeta
    Ravikumar, Vasanth
    Lee, Jieun
    Callaway, Trenton
    Karnopp, Courtney
    Guo, Yugene
    Jhun, Bong Sook
    Tolkacheva, Elena
    O-Uchi, Jin
    Sheu, Shey-Shing
    FASEB JOURNAL, 2021, 35
12345