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Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
Gallenmüller, Constanze; Müller-Felber, Wolfgang; Dusl, Marina; Stucka, Rolf; Guergueltcheva, Velina; Blaschek, Astrid; von der Hagen, Maja; Huebner, Angela; Müller, Juliane S; Lochmüller, Hanns; Abicht, Angela.
Afiliação
  • Gallenmüller C; Friedrich-Baur-Institut, Ludwig Maximilians University, Munich, Germany.
  • Müller-Felber W; Haunersche Kinderklinik, Ludwig Maximilians University, Munich, Germany.
  • Dusl M; Friedrich-Baur-Institut, Ludwig Maximilians University, Munich, Germany.
  • Stucka R; Friedrich-Baur-Institut, Ludwig Maximilians University, Munich, Germany.
  • Guergueltcheva V; Friedrich-Baur-Institut, Ludwig Maximilians University, Munich, Germany; Clinic of Neurology, University Hospital Alexandrovska, Sofia, Bulgaria.
  • Blaschek A; Haunersche Kinderklinik, Ludwig Maximilians University, Munich, Germany.
  • von der Hagen M; Children's Hospital, Technical University Dresden, Germany.
  • Huebner A; Children's Hospital, Technical University Dresden, Germany.
  • Müller JS; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Lochmüller H; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Abicht A; Friedrich-Baur-Institut, Ludwig Maximilians University, Munich, Germany; Medical Genetics Center, Munich, Germany. Electronic address: Angela.Abicht@med.uni-muenchen.de.
Neuromuscul Disord ; 24(1): 31-5, 2014 Jan.
Article em En | MEDLINE | ID: mdl-24183479
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores Colinérgicos / Receptores Proteína Tirosina Quinases / Mutação de Sentido Incorreto / Síndromes Miastênicas Congênitas / Albuterol Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores Colinérgicos / Receptores Proteína Tirosina Quinases / Mutação de Sentido Incorreto / Síndromes Miastênicas Congênitas / Albuterol Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Alemanha