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Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.
Witting, N; Laforêt, P; Voermans, N C; Roux-Buisson, N; Bompaire, F; Rendu, J; Duno, M; Feillet, F; Kamsteeg, E-J; Poulsen, N S; Dahlqvist, J R; Romero, N B; Fauré, J; Vissing, J; Behin, A.
Afiliação
  • Witting N; Department of Neurology, Copenhagen Neuromuscular Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
  • Laforêt P; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Institut de Myologie, AP-HP, Paris Cedex, France.
  • Voermans NC; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Roux-Buisson N; INSERM U121, Equipe CMyPath, Institut des Neurosciences, Grenoble, France.
  • Bompaire F; Biochimie Génétique et Moléculaire, Institut de Biologie et Pathologie, CHU, Grenoble, France.
  • Rendu J; Neurologie, Hopital d'instruction des Armées Percy, Clamart, France.
  • Duno M; INSERM U121, Equipe CMyPath, Institut des Neurosciences, Grenoble, France.
  • Feillet F; Biochimie Génétique et Moléculaire, Institut de Biologie et Pathologie, CHU, Grenoble, France.
  • Kamsteeg EJ; Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
  • Poulsen NS; Service de Médecine Infantile 1, Centre de Référence des Maladies Héréditaires du Métabolisme, Centre Hospitalier Universitaire Brabois-Enfants, Vandœuvre-lès-Nancy, France.
  • Dahlqvist JR; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Romero NB; Department of Neurology, Copenhagen Neuromuscular Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
  • Fauré J; Department of Neurology, Copenhagen Neuromuscular Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
  • Vissing J; Laboratoire de Pathologie Musculaire Risler, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
  • Behin A; INSERM U121, Equipe CMyPath, Institut des Neurosciences, Grenoble, France.
Acta Neurol Scand ; 137(5): 452-461, 2018 May.
Article em En | MEDLINE | ID: mdl-29635721

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rabdomiólise / Canal de Liberação de Cálcio do Receptor de Rianodina / Mialgia Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Acta Neurol Scand Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Dinamarca País de publicação: Dinamarca

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rabdomiólise / Canal de Liberação de Cálcio do Receptor de Rianodina / Mialgia Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: Acta Neurol Scand Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Dinamarca País de publicação: Dinamarca