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
  • [41] Malignant Hyperthermia-associated Mutation of RyR1 Induces Mitochondrial Damages and Cellular Oxidation in the Heart
    O-Uchi, Jin
    Mishra, Jyotsna
    Jhun, Bong Sook
    Hurst, Stephen
    Fu, Deming
    Gomez, Ludovic
    Sheu, Shey-Shing
    FASEB JOURNAL, 2016, 30
  • [42] Novel Trp3985Arg mutation of the ryanodine receptor (RYR1) gene in a Taiwanese patient with malignant hyperthermia.
    Hung, SI
    Cheng, JK
    Lin, YL
    Wu, JY
    Chen, YT
    AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 415 - 415
  • [43] The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
    Knuiman, G. J.
    Kusters, B.
    Eshuis, L.
    Snoeck, M.
    Lammens, M.
    Heytens, L.
    De Ridder, W.
    Baets, J.
    Scalco, R. S.
    Quinlivan, R.
    Holton, J.
    Bodi, I.
    Wraige, E.
    Radunovic, A.
    von Landenberg, C.
    Reimann, J.
    Kamsteeg, E. -J.
    Sewry, C.
    Jungbluth, H.
    Voermans, N. C.
    JOURNAL OF NEUROLOGY, 2019, 266 (04) : 876 - 887
  • [44] DETECTION OF MUTATIONS IN THE RYR1 GENE IN MALIGNANT HYPERTHERMIA SUSCEPTIBLE PERSONS
    ADEOKUN, AM
    ELLIS, FR
    HOPKINS, PM
    HALSALL, PJ
    CURRAN, J
    STEWART, AD
    WEST, SP
    JOURNAL OF MEDICAL GENETICS, 1995, 32 (02) : 155 - 155
  • [45] RYR1 variants in Czech patients with neuromuscular disorders and malignant hyperthermia
    Zidkova, Jana
    Kramarova, Tereza
    Reblova, Kamila
    Klincova, Martina
    Stepankova, Dagmar
    Ostadalova, Edita
    Fajkusova, Lenka
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 508 - 508
  • [46] Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation
    Fagerlund, TH
    Ording, H
    Bendixen, D
    Islander, G
    Twetman, ER
    Berg, K
    CLINICAL GENETICS, 1997, 52 (06) : 416 - 421
  • [47] The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
    G. J. Knuiman
    B. Küsters
    L. Eshuis
    M. Snoeck
    M. Lammens
    L. Heytens
    W. De Ridder
    J. Baets
    R. S. Scalco
    R. Quinlivan
    J. Holton
    I. Bodi
    E. Wraige
    A. Radunovic
    C. von Landenberg
    J. Reimann
    E.-J. Kamsteeg
    C. Sewry
    H. Jungbluth
    N. C. Voermans
    Journal of Neurology, 2019, 266 : 876 - 887
  • [48] Therapeutic Effects of a Novel RyR1 Inhibitor on Malignant Hyperthermia-Susceptible Model Mice
    Murayama, Takashi
    Yamazawa, Toshiko
    Kobayashi, Takuya
    Kurebayashi, Nagomi
    Noguchi, Satoru
    Nishino, Ichizo
    Mori, Shuichi
    Kagechika, Hiroyuki
    Lopez, Jose R.
    Allen, Paul D.
    BIOPHYSICAL JOURNAL, 2020, 118 (03) : 98A - 98A
  • [49] RYR1 Mutations as a Cause of Ophthalmoplegia, Facial Weakness, and Malignant Hyperthermia
    Shaaban, Sherin
    Ramos-Platt, Leigh
    Gilles, Floyd H.
    Chan, Wai-Man
    Andrews, Caroline
    De Girolami, Umberto
    Demer, Joseph
    Engle, Elizabeth C.
    JAMA OPHTHALMOLOGY, 2013, 131 (12) : 1532 - 1540
  • [50] A malignant hyperthermia-inducing mutation in RYR1 (R163C): alterations in Ca2+ entry, release, and retrograde signaling to the DHPR
    Esteve, Eric
    Eltit, Jose M.
    Bannister, Roger A.
    Liu, Kai
    Pessah, Isaac N.
    Beam, Kurt G.
    Allen, Paul D.
    Lopez, Jose R.
    JOURNAL OF GENERAL PHYSIOLOGY, 2010, 135 (06): : 619 - 628
12345