An unusual mutation in myotonia congenita

被引:0
|
作者
Chien, Shih-Chao [1 ]
Wu, Jr-Wei [2 ]
Su, Yu-Jang [1 ,3 ]
机构
[1] Mackay Mem Hosp, Dept Emergency Med, Taipei, Taiwan
[2] Taipei Vet Gen Hosp, Neurol Inst, Dept Neurol, Taipei, Taiwan
[3] MacKay Med Coll, Dept Med, New Taipei, Taiwan
来源
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:E53 / E55
页数:3
相关论文
共 50 条
  • [21] A Case of Myotonia Congenita with Warm-Up Phenomenon and a Novel Mutation
    Khosa, Shaweta
    Khosa, Gurveer Singh
    Mishra, Shri K.
    ANNALS OF NEUROLOGY, 2019, 86 : S111 - S111
  • [22] A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita
    Gandolfi, Barbara
    Daniel, Rob J.
    O'Brien, Dennis P.
    Guo, Ling T.
    Youngs, Melanie D.
    Leach, Stacey B.
    Jones, Boyd R.
    Shelton, G. Diane
    Lyons, Leslie A.
    PLOS ONE, 2014, 9 (10):
  • [23] LINKAGE STUDIES OF MYOTONIA CONGENITA AND PARAMYOTONIA CONGENITA
    BENDER, K
    SENFF, H
    STEIERT, A
    LAGODNY, H
    WIENKER, TF
    KOCH, M
    CLINICAL GENETICS, 1989, 36 (02) : 92 - 99
  • [24] DISTINGUISHING PARAMYOTONIA CONGENITA AND MYOTONIA CONGENITA BY ELECTROMYOGRAPHY
    SUBRAMONY, SH
    MALHOTRA, CP
    MISHRA, SK
    MUSCLE & NERVE, 1983, 6 (05) : 374 - 379
  • [25] MUTATION DETECTION IN THE CLCN1 GENE OF PATIENTS WITH MYOTONIA-CONGENITA THOMSEN AND GENERALIZED MYOTONIA BECKER
    KOCH, MC
    MEYERKLEIN, C
    OTTO, M
    RICKER, K
    LORENZ, C
    STEINMEYER, K
    JENTSCH, RJ
    CYTOGENETICS AND CELL GENETICS, 1995, 71 (01): : 30 - 30
  • [26] CLCN1 Myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia
    Gaitan-Penas, Hector
    Armand-Ugon, Mercedes
    Macaya, Alfons
    Estevez, Raul
    MUSCLE & NERVE, 2018, 58 (01) : 157 - 160
  • [27] Myotonia Congenita Mutation Disrupts the Biosynthesis of CLC-1 Channels.
    Lee, T-T.
    Jeng, C-J.
    Chen, T-Y.
    Tang, C-Y.
    MOLECULAR BIOLOGY OF THE CELL, 2012, 23
  • [28] Decrement of compound muscle action potential is related to mutation type in myotonia congenita
    Colding-Jorgensen, E
    Duno, M
    Schwartz, M
    Vissing, J
    MUSCLE & NERVE, 2003, 27 (04) : 449 - 455
  • [29] MYOTONIA CONGENITA - REPORT OF A FAMILY
    ALONSO, ME
    FIGUEROA, HH
    FLORES, T
    REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION, 1981, 33 (02): : 231 - 231
  • [30] ELECTROPHYSIOLOGIC MANIFESTATIONS OF MYOTONIA CONGENITA
    WONG, WB
    RIVNER, MH
    SWIFT, TR
    ELECTROENCEPHALOGRAPHY AND CLINICAL NEUROPHYSIOLOGY, 1986, 64 (03): : P56 - P56