Congential myasthenic syndromes

被引：1
|
作者：
Sieb, JP
Kraner, S
Steinlein, OK
Bufler, J
机构：
[1] Max Planck Inst Psychiat, Klin Inst Neurol, D-80804 Munich, Germany
[2] Univ Bonn, Inst Humangenet, D-5300 Bonn, Germany
[3] Hannover Med Sch, Zentrum Neurol, Hannover, Germany
来源：
KLINISCHE NEUROPHYSIOLOGIE | 2000年 / 31卷 / 03期
关键词：
end-plate; neuromuscular transmission; acetylcholine receptor; acetylcholinesterase; slow-channel syndrome;
D O I：
10.1055/s-2008-1060054
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
In recent years, some genetic diseases of neuromuscular transmission were characterized and investigated on a molecular level. Presynaptic as well as postsynaptic defects disturb neuromuscular transmission. Most of the newly characterized diseases show mutations of the nicotinic acetylcholine receptor gene. By means of the patch-clamp technique it was possible to investigate single channel kinetics of mutated channels and to compare the results with data from normal receptors. Using recombinant receptors expressed in cultured cells will allow further analysis of these defects on a molecular level. This review gives an update overview of pathogenetic and clinical aspects as well as of therapeutic strategies of these rare neuromuscular disorders.
引用
收藏
页码：148 / 154
页数：11
相关论文
共 50 条
  • [31] Congenital Myasthenic Syndromes in 2018
    Engel, Andrew G.
    CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, 2018, 18 (08)
  • [32] Congenital Myasthenic Syndromes in 2018
    Andrew G. Engel
    Current Neurology and Neuroscience Reports, 2018, 18
  • [33] Congenital myasthenic syndromes in 2006
    Engel, A. G.
    NEUROMUSCULAR DISORDERS, 2006, 16 : S97 - S98
  • [34] The therapy of congenital myasthenic syndromes
    Andrew G. Engel
    Neurotherapeutics, 2007, 4 : 252 - 257
  • [35] THE INVESTIGATION OF CONGENITAL MYASTHENIC SYNDROMES
    ENGEL, AG
    ANNALS OF THE NEW YORK ACADEMY OF SCIENCES, 1993, 681 : 425 - 434
  • [36] The spectrum of congenital myasthenic syndromes
    Andrew G. Engel
    Kinji Ohno
    Steven M. Sine
    Molecular Neurobiology, 2002, 26 : 347 - 367
  • [37] Myasthenia gravis and myasthenic syndromes
    Marouf, W.
    Sieb, J. P.
    ZEITSCHRIFT FUR RHEUMATOLOGIE, 2009, 68 (06): : 465 - 470
  • [38] The spectrum of congenital myasthenic syndromes
    Engel, AG
    Ohno, K
    Sine, SM
    MOLECULAR NEUROBIOLOGY, 2002, 26 (2-3) : 347 - 367
  • [39] Congenital myasthenic syndromes: an update
    Hantai, Daniel
    Nicole, Sophie
    Eymard, Bruno
    CURRENT OPINION IN NEUROLOGY, 2013, 26 (05) : 561 - 568
  • [40] The therapy of congenital myasthenic syndromes
    Engel, Andrew G.
    NEUROTHERAPEUTICS, 2007, 4 (02) : 252 - 257
12345