Congenital myasthenic syndrome due to COLQ mutations: Clues for diagnosis

被引:1
|
作者
Haliloglu, G. [1 ]
Demirci, T. [1 ]
Alikasifoglu, M. [1 ]
Aktas, D. [1 ]
Anlar, B. [1 ]
Topaloglu, H. [1 ]
机构
[1] Hacettepe Univ, Childrens Hosp, Ankara, Turkey
关键词
D O I
10.1016/j.nmd.2016.06.097
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
P.75
引用
收藏
页码:S112 / S112
页数:1
相关论文
共 50 条
  • [1] Phenotypical spectrum of congenital myasthenic syndrome caused by mutations in COLQ gene
    Mihaylova, V.
    Muller, J.
    Vilchez, J.
    Salih, M.
    Kabiraj, M.
    D'Amico, A.
    Bertini, E.
    Woelfle, J.
    Schreiner, F.
    Kurlemann, G.
    Rasic, V.
    Siskova, D.
    Colomer, J.
    Herczegfalvi, A.
    Fabriciova, K.
    Weschke, B.
    Scola, R.
    Hoellen, F.
    Schara, U.
    Abicht, A.
    Lochmueller, H.
    JOURNAL OF NEUROLOGY, 2008, 255 : 185 - 185
  • [2] Two patients with congenital myasthenic syndrome caused by COLQ gene mutations and the consequent ColQ protein defect
    Zhang, Qiting
    Sha, Qianqian
    Qiao, Kai
    Liu, Xiaoli
    Gong, Xiaohui
    Du, Gong
    HELIYON, 2023, 9 (02)
  • [3] Recurrent COLQ Mutation in Congenital Myasthenic Syndrome
    Guven, Alev
    Demirci, Mehmet
    Anlar, Banu
    PEDIATRIC NEUROLOGY, 2012, 46 (04) : 253 - 256
  • [4] Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis
    Güntülü Sare Duran
    Tuğçe Aksu Uzunhan
    Barış Ekici
    Agop Çıtak
    Nur Aydınlı
    Mine Çalışkan
    Acta Neurologica Belgica, 2013, 113 : 531 - 532
  • [5] Severe scoliosis in a patient with COLQ mutation and congenital myasthenic syndrome: a clue for diagnosis
    Duran, Guntulu Sare
    Uzunhan, Tugce Aksu
    Ekici, Baris
    Citak, Agop
    Aydinli, Nur
    Caliskan, Mine
    ACTA NEUROLOGICA BELGICA, 2013, 113 (04) : 531 - 532
  • [6] Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations
    Shao, Shuai
    Shi, Guanzhong
    Bi, Fang-Fang
    Huang, Kun
    CURRENT NEUROPHARMACOLOGY, 2023, 21 (07) : 1594 - 1605
  • [7] COLQ-related congenital myasthenic syndrome: An integrative view
    Eshaghian, Tina
    Rabbani, Bahareh
    Badv, Reza Shervin
    Mikaeeli, Sahar
    Gharib, Behdad
    Iyadurai, Stanley
    Mahdieh, Nejat
    NEUROGENETICS, 2023, 24 (03) : 189 - 200
  • [8] COLQ-related congenital myasthenic syndrome: An integrative view
    Tina Eshaghian
    Bahareh Rabbani
    Reza Shervin Badv
    Sahar Mikaeeli
    Behdad Gharib
    Stanley Iyadurai
    Nejat Mahdieh
    neurogenetics, 2023, 24 : 189 - 200
  • [9] Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation
    Tsai, Kate L.
    Vernau, Karen M.
    Winger, Kathryn
    Zwueste, Danielle M.
    Sturges, Beverly K.
    Knipe, Marguerite
    Williams, D. Colette
    Anderson, Kendall J.
    Evans, Jacquelyn M.
    Guo, Ling T.
    Clark, Leigh Anne
    Shelton, G. Diane
    JOURNAL OF VETERINARY INTERNAL MEDICINE, 2020, 34 (01) : 258 - 265
  • [10] Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations
    Wargon, I.
    Richard, P.
    Kuntzer, T.
    Sternberg, D.
    Nafissi, S.
    Gaudon, K.
    Lebail, A.
    Bauche, S.
    Hantai, D.
    Fournier, E.
    Eymard, B.
    Stojkovic, T.
    NEUROMUSCULAR DISORDERS, 2012, 22 (04) : 318 - 324