Diagnosis of DOK7 Congenital Myasthenic Syndrome during pregnancy

被引:0
|
作者
Fernandes, M. [1 ]
Caetano, A. [1 ]
Pinto, M.
Medeiros, E. [2 ]
Nogueira dos Santos, L. [2 ]
机构
[1] Dept Neurol, Lisbon, Portugal
[2] Dept Neurol, Carcavelos, Portugal
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
EPR-124
引用
收藏
页码:288 / 288
页数:1
相关论文
共 50 条
  • [31] A novel DOK7 mutation causing congenital myasthenic syndrome with limb-girdle weakness: case series of three family members
    Alsallum, Mohammed S.
    Alshareef, Aysha
    Abuzinadah, Ahmad R.
    Bamaga, Ahmed K.
    Dallol, Ashraf
    HELIYON, 2021, 7 (05)
  • [32] Mutations causing DOK7 congenital myasthenia ablate functional motifs in dok-7
    Hamuro, Johko
    Higuchi, Osamu
    Okada, Kumiko
    Ueno, Makiko
    Iemura, Shun-Ichiro
    Natsume, Tohru
    Spearman, Hayley
    Beeson, David
    Yamanashi, Yuji
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2008, 283 (09) : 5518 - 5524
  • [33] DOK 7 limb girdle myasthenic syndrome mimicking congenital muscular dystrophy
    Mahjneh, I.
    Lochmueller, H.
    Muntoni, F.
    Abicht, A.
    NEUROMUSCULAR DISORDERS, 2012, 22 (9-10) : 830 - 830
  • [34] Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia
    Oury, Julien
    Zhang, Wei
    Leloup, Nadia
    Koide, Akiko
    Corrado, Alexis D.
    Ketavarapu, Gayatri
    Hattori, Takamitsu
    Koide, Shohei
    Burden, Steven J.
    NATURE, 2021, 595 (7867) : 404 - +
  • [35] Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia
    Julien Oury
    Wei Zhang
    Nadia Leloup
    Akiko Koide
    Alexis D. Corrado
    Gayatri Ketavarapu
    Takamitsu Hattori
    Shohei Koide
    Steven J. Burden
    Nature, 2021, 595 : 404 - 408
  • [36] Pregnancy in congenital myasthenic syndrome
    Servais, L.
    Baudoin, H.
    Zehrouni, K.
    Richard, P.
    Sternberg, D.
    Fournier, E.
    Eymard, B.
    Stojkovic, T.
    JOURNAL OF NEUROLOGY, 2013, 260 (03) : 815 - 819
  • [37] Pregnancy in congenital myasthenic syndrome
    L. Servais
    H. Baudoin
    K. Zehrouni
    P. Richard
    D. Sternberg
    E. Fournier
    B. Eymard
    T. Stojkovic
    Journal of Neurology, 2013, 260 : 815 - 819
  • [38] Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction
    Maselli, Ricardo A.
    Arredondo, Juan
    Cagney, Orla
    Ng, Jarae J.
    Anderson, Jennifer A.
    Williams, Colette
    Gerke, Bae J.
    Soliven, Betty
    Wollmann, Robert L.
    HUMAN MOLECULAR GENETICS, 2010, 19 (12) : 2370 - 2379
  • [39] Salbutamol treatment in congenital myasthenic syndrome with Dok-7 mutation: an open prospective study
    Lorenzoni, P. J.
    Scola, R. H.
    Kay, C. S. K.
    Filla, L.
    Paranhos, A. P.
    Pinheiro, J. M. R.
    Lochmuller, H.
    Werneck, L. C.
    JOURNAL OF NEUROLOGY, 2013, 260 : S239 - S239
  • [40] DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency
    Gaist, David
    Mogensen, Jens
    Pedersen, Emil Greve
    Schroder, Henrik Daa
    Vissing, John
    Andersen, Henning
    Hertz, Jens Michael
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2017, 379 : 217 - 218