EXTRAOCULAR MUSCLE HYPERTROPHY IN MYOTONIA CONGENITA: MUTATION IDENTIFIED IN THE SCN4A GENE (V445M)

被引:6
|
作者
Wakeman, Bradley [1 ]
MacDonald, Ian M.
Ginjaar, Ieke
Tarleton, Jack
Babu, Deepti
机构
[1] Univ Alberta, Dept Ophthalmol, Edmonton, AB, Canada
来源
JOURNAL OF AAPOS | 2009年 / 13卷 / 05期
关键词
CLCN1;
D O I
10.1016/j.jaapos.2009.07.001
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
引用
收藏
页码:526 / 527
页数:2
相关论文
共 39 条
  • [1] Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene
    Du, H.
    Grob, S. R.
    Zhao, L.
    Lee, J.
    El-Sahn, M.
    Hughes, G.
    Luo, J.
    Schaf, K.
    Duan, Y.
    Quach, J.
    Wei, X.
    Shaw, P.
    Granet, D.
    Zhang, K.
    EYE, 2012, 26 (08) : 1039 - 1043
  • [2] Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene
    H Du
    S R Grob
    L Zhao
    J Lee
    M El-Sahn
    G Hughes
    J Luo
    K Schaf
    Y Duan
    J Quach
    X Wei
    P Shaw
    D Granet
    K Zhang
    Eye, 2012, 26 : 1039 - 1043
  • [3] A Large Dominant Myotonia Congenita Family with a V12931 Mutation in SCN4A
    Chung, Ki Wha
    Yoo, Da Hye
    Lee, Soo Jung
    Choi, Byung-Ok
    Lee, Sang-Soo
    JOURNAL OF CLINICAL NEUROLOGY, 2016, 12 (04): : 509 - 511
  • [4] A large dominant myotonia congenita family with a V1293I mutation in SCN4A
    Chung, K.
    Yoo, D.
    Lee, S.
    Choi, B.
    Lee, S.
    NEUROMUSCULAR DISORDERS, 2016, 26 : S197 - S197
  • [5] Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis
    Xu Yang-Qi
    Liu Xiao-Li
    Huang Xiao-Jun
    Tian Wo-Tu
    Tang Hui-Dong
    Cao Li
    中华医学杂志英文版, 2018, 131 (04) : 477 - 479
  • [6] Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis
    Xu, Yang-Qi
    Liu, Xiao-Li
    Huang, Xiao-Jun
    Tian, Wo-Tu
    Tang, Hui-Dong
    Cao, Li
    CHINESE MEDICAL JOURNAL, 2018, 131 (04) : 477 - 479
  • [7] Enhanced slow inactivation by V445M: A sodium channel mutation associated with myotonia
    Takahashi, MP
    Cannon, SC
    BIOPHYSICAL JOURNAL, 1999, 76 (02) : 861 - 868
  • [8] Slow inactivation is enhanced by V445M: A sodium channel mutation associated with myotonia
    Takahashi, MP
    Cannon, SC
    BIOPHYSICAL JOURNAL, 1999, 76 (01) : A195 - A195
  • [9] Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation
    Trip, J.
    Faber, C. G.
    Ginjaar, H. B.
    van Engelen, B. G. M.
    Drost, G.
    JOURNAL OF NEUROLOGY, 2007, 254 (02) : 257 - 258
  • [10] Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation
    J. Trip
    C.G. Faber
    H.B. Ginjaar
    B.G.M. van Engelen
    G. Drost
    Journal of Neurology, 2007, 254 : 257 - 258