The congenital myasthenic syndromes

被引：37
|
作者：
Palace, Jackie [1 ]
Beeson, David [2 ]
机构：
[1] John Radcliffe Hosp, Dept Clin Neurol, Oxford OX3 9DU, England
[2] John Radcliffe Hosp, Weatherall Inst Mol Med, Neurosci Grp, Oxford OX3 9DS, England
来源：
JOURNAL OF NEUROIMMUNOLOGY | 2008年 / 201卷
基金：
英国医学研究理事会;
关键词：
Congenital myasthenic syndromes; Mini clinical reviews; Neuromuscular transmission;
D O I：
10.1016/j.jneuroim.2008.05.030
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
The congenital myasthenic syndromes (CMS) are rare inherited disorders of neuromuscular transmission characterised by fatigable muscle weakness. Thus far, genetic analysis has identified mutations in eleven different genes but it is clear that additional phenotypic Subgroups exist where the underlying genetics has not yet been defined. Although each syndrome results from defective synaptic transmission at the neuromuscular Junction, the patients show a variable set of phenotypes. Here, we provide a brief clinical review. (C) 2008 Elsevier B.V. All rights reserved.
引用
收藏
页码：2 / 5
页数：4
相关论文
共 50 条
  • [1] Congenital myasthenic syndromes
    Vedanarayanan, CV
    [J]. NEUROLOGIST, 2000, 6 (03) : 186 - 196
  • [2] Congenital Myasthenic Syndromes
    Shieh, Perry B.
    Oh, Shin J.
    [J]. NEUROLOGIC CLINICS, 2018, 36 (02) : 367 - +
  • [3] Congenital Myasthenic Syndromes
    Iyadurai, Stanley Jones P.
    [J]. NEUROLOGIC CLINICS, 2020, 38 (03) : 541 - 552
  • [4] Congenital myasthenic syndromes
    Engel, AG
    [J]. JOURNAL OF CHILD NEUROLOGY, 1999, 14 (01) : 38 - 41
  • [5] Congenital myasthenic syndromes
    Gervini, B. L.
    Lorenzoni, P. J.
    Kay, C. S. K.
    Scola, R. H.
    Werneck, L. C.
    [J]. JOURNAL OF NEUROLOGY, 2006, 253 : 105 - 105
  • [6] Congenital myasthenic Syndromes
    Nogajski, Joseph H.
    Kiernan, Matthew C.
    Ouvrier, Robert A.
    Andrews, P. Ian
    [J]. JOURNAL OF CLINICAL NEUROSCIENCE, 2009, 16 (01) : 1 - 11
  • [7] Congenital myasthenic syndromes
    Della Marina, A.
    Abicht, A.
    Schara, U.
    [J]. NERVENHEILKUNDE, 2011, 30 (10) : 797 - 804
  • [8] Congenital myasthenic syndromes
    Henehan, Leighann
    Beeson, David
    Palace, Jacqueline
    [J]. PRACTICAL NEUROLOGY, 2024, 24 (03) : 185 - 187
  • [9] CONGENITAL MYASTHENIC SYNDROMES
    SHILLITO, P
    VINCENT, A
    NEWSOMDAVIS, J
    [J]. NEUROMUSCULAR DISORDERS, 1993, 3 (03) : 183 - 190
  • [10] Congenital myasthenic syndromes
    Hantaï, D
    Richard, P
    Koenig, J
    Eymard, B
    [J]. CURRENT OPINION IN NEUROLOGY, 2004, 17 (05) : 539 - 551
12345