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
  • [41] Late-onset and milder phenotypes in a DOK7 myasthenic syndrome cohort to rethink the natural history of a perceived severe disease
    Brisson, J.
    Villeneuve, J.
    Nicolas, L.
    Mathieu, J.
    Gagnon, C.
    NEUROMUSCULAR DISORDERS, 2024, 43
  • [42] 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
  • [43] Dramatic improvement of scoliosis in a patient with DOK7-related congenital myasthenic syndrome treated with ephedrine
    Graca, F.
    Iwabe, C.
    Cavalcante Franca, M., Jr.
    NEUROMUSCULAR DISORDERS, 2023, 33 : S113 - S113
  • [44] 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
  • [45] 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)
  • [46] Effective treatment with oral Salbutamol on late onset respiratory impairment in a DOK7 Congenital Myasthenia Syndrome: a case report
    Tomsa, Corina
    Viccaro, Fausta
    Panza, Luigi
    D'Antoni, Letizia
    Palange, Paolo
    MULTIDISCIPLINARY RESPIRATORY MEDICINE, 2024, 19
  • [47] 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
  • [48] Effective treatment with oral Salbutamol on late onset respiratory impairment in a DOK7 Congenital Myasthenia Syndrome: a case report
    Tomsa, Corina
    Viccaro, Fausta
    Panza, Luigi
    D'Antoni, Letizia
    Palange, Paolo
    MULTIDISCIPLINARY RESPIRATORY MEDICINE, 2024, 19
  • [49] Diagnosis and treatment of congenital myasthenic syndrome
    Sieb, JP
    Hans, M
    Swandulla, D
    Marquard, K
    Steinlein, OK
    MONATSSCHRIFT KINDERHEILKUNDE, 2005, 153 (05) : 453 - +
  • [50] Phenotypical spectrum of DOK-7 mutations in congenital myasthenic syndromes (CMS)
    Mueller, Juliane S.
    Herczegfalvi, Agnes
    Vilchez, Juan J.
    Colomer, Jaume
    Santos, Manuela
    Schara, Ulrike
    Deschauer, Marcus
    Shevell, Michael
    Poulin, Chantal
    Dias, Ana
    Soudo, Ana
    Hietala, Marja
    Aeaerimaa, Tuula
    Bachinski, Linda L.
    Krahe, Ralf
    Karcagi, Veronika
    Beeson, David
    Abicht, Angela
    Lochmueller, Hanns
    NEUROLOGY, 2007, 68 (12) : A299 - A299