DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency

被引：3
|
作者：
Gaist, David [1 ,2 ]
Mogensen, Jens [3 ]
Pedersen, Emil Greve [1 ,2 ]
Schroder, Henrik Daa [4 ]
Vissing, John [5 ]
Andersen, Henning [6 ]
Hertz, Jens Michael [7 ]
机构：
[1] Odense Univ Hosp, Dept Neurol, JB Winslowsvej 4, DK-5000 Odense C, Denmark
[2] Univ Southern Denmark, Dept Clin Res, Odense, Denmark
[3] Odense Univ Hosp, Dept Cardiol, Odense, Denmark
[4] Odense Univ Hosp, Dept Pathol, Odense, Denmark
[5] Rigshosp, Neuromuscular Res Unit, Copenhagen, Denmark
[6] Aarhus Univ Hosp, Dept Neutol, Aarhus, Denmark
[7] Odense Univ Hosp, Dept Clin Genet, Odense, Denmark
来源：
JOURNAL OF THE NEUROLOGICAL SCIENCES | 2017年 / 379卷
关键词：
DOK7 congenital myasthenia; Cardiac disease; Mitral valve disease; Neuromuscular disorders; PROLAPSE; MUTATIONS;
D O I：
10.1016/j.jns.2017.06.005
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：217 / 218
页数：2
相关论文
共 50 条
  • [1] 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 - +
  • [2] 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
  • [3] 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
  • [4] DOK7 congenital myasthenic syndrome
    Palace, Jacqueline
    MYASTHENIA GRAVIS AND RELATED DISORDERS II, 2012, 1275 : 49 - 53
  • [5] Clinical and neurophysiological response to pharmacological treatment of DOK7 congenital myasthenia in an older patient
    Witting, Nanna
    Crone, Clarissa
    Duno, Morten
    Vissing, John
    CLINICAL NEUROLOGY AND NEUROSURGERY, 2015, 130 : 168 - 170
  • [6] Late presentation DOK7 congenital myasthenia syndrome (CMS), misdiagnosed as myasthenia gravis (MG)- a case series
    Henehan, L.
    Rossini, E.
    Dong, Y.
    Beeson, D.
    Ramdas, S.
    Leite, I.
    Palace, J.
    NEUROMUSCULAR DISORDERS, 2024, 43
  • [7] Dose escalation pre-clinical trial of novel DOK7-AAV in mouse model of DOK7 congenital myasthenia
    Cossins, Judith
    Kozma, Imre
    Canzonetta, Claudia
    Hawkins, Al
    Beeson, David
    Sepulveda, Patricio
    Dong, Yin Yao
    BRAIN COMMUNICATIONS, 2025, 7 (01)
  • [8] Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia
    Webster, Richard G.
    Vanhaesebrouck, An E.
    Maxwell, Susan E.
    Cossins, Judith A.
    Liu, Weiwei
    Ueta, Ryo
    Yamanashi, Yuji
    Beeson, David M. W.
    HUMAN MOLECULAR GENETICS, 2020, 29 (14) : 2325 - 2336
  • [9] Variable phenotypes associated with mutations in DOK7
    Anderson, Jennifer A.
    Ng, Jarae J.
    Bowe, Constance
    McDonald, Craig
    Richman, David P.
    Wollmann, Robert L.
    Maselli, Ricardo A.
    MUSCLE & NERVE, 2008, 37 (04) : 448 - 456
  • [10] Diagnosis of DOK7 Congenital Myasthenic Syndrome during pregnancy
    Fernandes, M.
    Caetano, A.
    Pinto, M.
    Medeiros, E.
    Nogueira dos Santos, L.
    EUROPEAN JOURNAL OF NEUROLOGY, 2021, 28 : 288 - 288
12345