Unraveling RYR1 mutations and muscle biopsies

被引：3
|
作者：
Morrison, Leslie [1 ,2 ]
机构：
[1] Univ New Mexico, Sch Med, Dept Neurol, Albuquerque, NM 87131 USA
[2] Univ New Mexico, Sch Med, Dept Pediat, Albuquerque, NM 87131 USA
来源：
NEUROLOGY | 2008年 / 70卷 / 02期
关键词：
D O I：
10.1212/01.wnl.0000298087.64205.af
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：99 / 100
页数：2
相关论文
共 50 条
  • [1] Pathological RyR1 Mutations to Identify RyR1 Functional Domains
    Cacheux, Marine
    Faure, Julien
    Brocard, Julie
    Monnier, Nicole
    Lunardi, Joel
    Marty, Isabelle
    [J]. BIOPHYSICAL JOURNAL, 2011, 100 (03) : 592 - 593
  • [2] Functional Studies of RYR1 Mutations in the Skeletal Muscle Ryanodine Receptor Using Human RYR1 Complementary DNA
    Sato, Keisaku
    Pollock, Neil
    Stowell, Kathryn M.
    [J]. ANESTHESIOLOGY, 2010, 112 (06) : 1350 - 1354
  • [3] Muscle hyperthrophy with RYR1 mutation
    Chrestian, N.
    Lace, B.
    Gould, P.
    Dionne, A.
    [J]. NEUROMUSCULAR DISORDERS, 2017, 27 : S238 - S239
  • [4] How mutations in RYR1 that cause malignant hyperthermia increase RYR1 sensitivity to activators
    Baker, Matthew L.
    Dirksen, Robert T.
    Hamilton, Susan L.
    [J]. CELL CALCIUM, 2021, 97
  • [5] Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations
    Jungbluth, H
    Davis, MR
    Müller, C
    Counsell, S
    Allsop, J
    Chattopadhyay, A
    Messina, S
    Mercuri, E
    Laing, NG
    Sewry, CA
    Bydder, G
    Muntoni, F
    [J]. NEUROMUSCULAR DISORDERS, 2004, 14 (12) : 785 - 790
  • [6] The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene
    Sewry, C.
    Jungbluth, H.
    Feng, L.
    Muntoni, F.
    [J]. NEUROMUSCULAR DISORDERS, 2011, 21 : S26 - S26
  • [7] The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene
    Sewry, C.
    Jungbluth, H.
    Feng, L.
    Muntoni, F.
    [J]. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2011, 37 : 30 - 30
  • [8] DOMINANT AND RECESSIVE RYR1 MUTATIONS IN ADULTS WITH CORE LESIONS AND MILD MUSCLE SYMPTOMS
    Duarte, Sofia T.
    Oliveira, Jorge
    Santos, Rosrio
    Pereira, Pedro
    Barroso, Candida
    Conceicao, Isabel
    Evangelista, Teresinha
    [J]. MUSCLE & NERVE, 2011, 44 (01) : 102 - 108
  • [9] RYR1 mutations in adults with acute rhabdomyolysis episodes
    Bompaire, F.
    Roux-Buisson, N.
    Monnier, N.
    Feillet, F.
    Romero, N. B.
    Laforet, P.
    Behin, A.
    [J]. NEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 809 - 809
  • [10] The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor 1 (RYR1) gene
    Feng, L.
    Jungbluth, H.
    Jimenez-Mallebrera, C.
    Zhou, H.
    Brown, S. C.
    Quinlivan, R.
    Muntoni, F.
    Sewry, C. A.
    [J]. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2009, 35 : 15 - 16
12345