SKELETAL MUSCLE CHLORIDE CHANNEL GENE (CLCN1) COPY NUMBER VARIATION CAN CAUSE MYOTONIA CONGENITA

被引：0
|
作者：
Rayan, D. Raja
Haworth, A.
Sud, R.
Matthews, E.
Fialho, D.
Burge, J.
Portaro, S.
Toscano, A.
Davis, M. D.
Hanna, M. G.
机构：
[1] UCL Inst Neurol, MRC Ctr Neuromuscular Dis, London, England
[2] UCLH Trust, Neurogenet Unit, Natl Hosp Neurol & Neurosurg, London, England
[3] Univ Messina, Dept Neurosci Psychiat & Anaesthesiol, I-98100 Messina, Italy
来源：
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2012年 / 83卷 / 03期
关键词：
D O I：
10.1136/jnnp-2011-301993.21
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
页数：1
相关论文
共 50 条
  • [1] Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita
    Zhang, J
    George, AL
    Griggs, RC
    Fouad, GT
    Roberts, J
    Kwiecinski, H
    Connolly, AM
    Ptacek, LJ
    NEUROLOGY, 1996, 47 (04) : 993 - 998
  • [2] Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families
    C. de Diego
    J. Gámez
    E. Plassart-Schiess
    A. Lasa
    E. Del Río
    C. Cervera
    M. Baiget
    P. Gallano
    B. Fontaine
    Journal of Neurology, 1999, 246 : 825 - 829
  • [3] Myotonia caused by mutations in the muscle chloride channel gene CLCN1
    Pusch, M
    HUMAN MUTATION, 2002, 19 (04) : 423 - 434
  • [4] Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families
    de Diego, C
    Gámez, J
    Plassart-Schiess, E
    Lasa, A
    Del Río, E
    Cervera, C
    Baiget, M
    Gallano, P
    Fontaine, B
    JOURNAL OF NEUROLOGY, 1999, 246 (09) : 825 - 829
  • [5] Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita
    Zhang, J
    Bendahhou, S
    Sanguinetti, MC
    Ptácek, LJ
    NEUROLOGY, 2000, 54 (04) : 937 - 942
  • [6] Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.
    Zhang, J
    Bendahhou, S
    Ptacek, LJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A501 - A501
  • [7] Myotonia congenita: novel mutations in CLCN1 gene
    Liu, Xiao-Li
    Huang, Xiao-Jun
    Shen, Jun-Yi
    Zhou, Hai-Yan
    Luan, Xing-Hua
    Wang, Tian
    Chen, Sheng-Di
    Wang, Ying
    Tang, Hui-Dong
    Cao, Li
    CHANNELS, 2015, 9 (05) : 292 - 297
  • [8] Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family
    SloanBrown, K
    George, AL
    NEUROLOGY, 1997, 48 (02) : 542 - 543
  • [9] Two novel mutations in the CLCN1 gene of myotonia congenita
    Li, Gang
    NEUROLOGY, 2007, 68 (12) : A297 - A297
  • [10] Analysis of the CLCN1 gene in Czech patients with myotonia congenita
    Sedlackova, J.
    Vohanka, S.
    Hermanova, M.
    Vondracek, P.
    Fajkusova, L.
    NEUROMUSCULAR DISORDERS, 2009, 19 (8-9) : 645 - 645
12345