Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

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• 来源
  《Brain》 |2007年第6期|1497-1506|共10页
• 作者

  Juliane S. Müller; Agnes Herczegfalvi; Juan J. Vilchez; Jaume Colomer; Linda L. Bachinski; Violeta Mihaylova; Manuela Santos; Ulrike Schara; Marcus Deschauer; Michael Shevell; Chantal Poulin; Ana Dias; Ana Soudo; Marja Hietala; Tuula Äärimaa; Ralf Krahe; Veronika Karcagi; Angela Huebner; David Beeson; Angela Abicht; and Hanns Lochmüller;

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• 作者单位

  Friedrich-Baur-Institute Department of Neurology Ludwig-Maximilians-University Munich Germany;

  Department of Neurology Bethesda Children's Hospital Budapest Hungary;

  Servicio de Neurologia Hospital Universitari La Fe Valencia Spain;

  Unitat de Patologia Neuromuscular Servei de Neurologia Hospital Sant Joan de Déu Esplugues (Barcelona) Spain;

  Department of Cancer Genetics Unit 1010 University of Texas M.D. Anderson Cancer Center Houston TX USA;

  Hospital de Criancas Maria Pia Porto Portugal;

  Department of Neuropediatrics;

  Staedtische Kliniken Neuss Germany;

  Department of Neurology Martin-Luther-Universität Halle-Wittenberg Halle/Saale Germany;

  Departments of Neurology/Neurosurgery Pediatrics Montreal Children's Hospital McGill University Montreal Quebec Canada;

  Department of Neuropediatrics Hospital D. Estefania Lisbon Portugal;

  Department of Medical Genetics University of Turku and Turku University Hospital Turku Finland;

  Department of Pediatric Neurology Turku University Hospital Turku Finland;

  National Center for Public Health National Institute of Environmental Health Department of Molecular Genetics and Diagnostics Budapest Hungary;

  Children's Hospital Technical University Dresden Germany and;

  Neurosciences Group Weatherall Institute of Molecular Medicine Department of Clinical Neurology University of Oxford UK;

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• 正文语种 eng
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