A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

被引:32
|
作者
Chaouch, A. [1 ]
Mueller, J. S. [2 ]
Guergueltcheva, V. [2 ,3 ]
Dusl, M. [2 ]
Schara, U. [4 ]
Rakocevic-Stojanovic, V. [5 ]
Lindberg, C. [6 ]
Scola, R. H. [7 ]
Werneck, L. C. [7 ]
Colomer, J. [8 ]
Nascimento, A. [8 ]
Vilchez, J. J. [9 ,10 ,11 ]
Muelas, N. [9 ,10 ,11 ]
Argov, Z. [12 ]
Abicht, A. [2 ]
Lochmueller, H. [1 ]
机构
[1] Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
[2] Univ Munich, Dept Neurol, Friedrich Baur Inst, D-8000 Munich, Germany
[3] Univ Hosp Alexandrovska, Clin Neurol, Sofia, Bulgaria
[4] Univ Essen Gesamthsch, Essen, Germany
[5] Univ Belgrade, Sch Med, Inst Neurol, Belgrade, Serbia
[6] Sahlgrens Univ Hosp, Dept Pathol, Goteborg Neuromuscular Ctr, Gothenburg, Sweden
[7] Univ Fed Parana, Hosp Clin, Neuromuscular Neurol Div, BR-80060000 Curitiba, Parana, Brazil
[8] Hosp St Joan de Deu, Unitat Patol Neuromuscular, Barcelona, Spain
[9] Univ Hosp, Serv Neurol, Valencia, Spain
[10] Politecn La Fe, Valencia, Spain
[11] CIBER Enfermedades Neurodegenerat CIBERNED, Madrid, Spain
[12] Hadassah Univ Hosp, Dept Neurol, IL-91120 Jerusalem, Israel
基金
英国医学研究理事会;
关键词
D O I
10.1016/j.nmd.2011.12.004
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
页码:S16 / S17
页数:2
相关论文
共 50 条
  • [31] A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR εL221F mutation
    Chevessier, Frederic
    Peter, Christoph
    Mersdorf, Ulrike
    Girard, Emmanuelle
    Krejci, Eric
    McArdle, Joseph J.
    Witzemann, Veit
    NEUROBIOLOGY OF DISEASE, 2012, 45 (03) : 851 - 861
  • [32] Acquired slow-channel syndrome
    Scola, RH
    Werneck, LC
    Iwamoto, FM
    Comerlato, EA
    Kay, CK
    MUSCLE & NERVE, 2000, 23 (10) : 1582 - 1585
  • [33] Decoding Pathogenesis of Slow-Channel Congenital Myasthenic Syndromes using Recombinant Expression and Mice Models
    David Otero-Cruz, Jose
    Alberto Baez-Pagan, Carlos
    Dorna-Perez, Luisamari
    Emanuel Grajales-Reyes, Gary
    Teresa Ramirez-Ordonez, Rosaura
    Luciano, Carlos A.
    Manuel Gomez, Christopher
    Antonio Lasalde-Dominicci, Jose
    PUERTO RICO HEALTH SCIENCES JOURNAL, 2010, 29 (01) : 4 - 17
  • [34] A novel β subunit Acetylcholine receptor mutation in the Slow-Channel Congenital Myasthenic Syndrome (SCCMS) display altered kinetics and sponatenous channel activity
    Rojas, L
    Navedo, M
    Cruz, A
    Gomez, C
    Lasalde, J
    FASEB JOURNAL, 1999, 13 (07): : A1569 - A1569
  • [35] Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome
    Groshong, Jason S.
    Spencer, Melissa J.
    Bhattacharyya, Bula J.
    Kudryashova, Elena
    Vohra, Bhupinder P. S.
    Zayas, Roberto
    Wollmann, Robert L.
    Miller, Richard J.
    Gomez, Christopher M.
    JOURNAL OF CLINICAL INVESTIGATION, 2007, 117 (10): : 2903 - 2912
  • [36] Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report
    Gooneratne, Inuka Kishara
    Nandasiri, Shanika
    Maxwell, Susan
    Webster, Richard
    Cossins, Judith
    Beeson, David
    Gunaratne, Kamal
    Herath, Lalinka
    Senanayake, Sunethra
    Chang, Thashi
    JOURNAL OF NEUROMUSCULAR DISEASES, 2021, 8 (01) : 163 - 167
  • [37] Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome
    Croxen, R
    Newland, C
    Beeson, D
    Oosterhuis, H
    Chauplannaz, G
    Vincent, A
    NewsomDavis, J
    HUMAN MOLECULAR GENETICS, 1997, 6 (05) : 767 - 774
  • [38] Clinical and genetic characterization of an Italian family with slow-channel syndrome
    Corrado Angelini
    Ludovico Lispi
    Cecilia Salvoro
    Maria Luisa Mostacciuolo
    Giovanni Vazza
    Neurological Sciences, 2019, 40 : 503 - 507
  • [39] Clinical and genetic characterization of an Italian family with slow-channel syndrome
    Angelini, Corrado
    Lispi, Ludovico
    Salvoro, Cecilia
    Mostacciuolo, Maria Luisa
    Vazza, Giovanni
    NEUROLOGICAL SCIENCES, 2019, 40 (03) : 503 - 507
  • [40] A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family
    Tan, Jia-Ze
    Man, Yuan
    Xiao, Fei
    CHINESE MEDICAL JOURNAL, 2016, 129 (21) : 2596 - 2602