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Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report.
Turcanová Koprusáková, Monika; Grofik, Milan; Kantorová, Ema; Jungová, Petra; Chandoga, Ján; Kolisek, Martin; Valkovic, Peter; Skorvánek, Matej; Ploski, Rafal; Kurca, Egon; Sivák, Stefan.
Afiliação
  • Turcanová Koprusáková M; Clinic of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollárova 2, 036 01, Martin, Slovak Republic.
  • Grofik M; Clinic of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollárova 2, 036 01, Martin, Slovak Republic.
  • Kantorová E; Clinic of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollárova 2, 036 01, Martin, Slovak Republic.
  • Jungová P; Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University and University Hospital in Bratislava, Bratislava, Slovak Republic.
  • Chandoga J; Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University and University Hospital in Bratislava, Bratislava, Slovak Republic.
  • Kolisek M; Biomedical Center Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Mala Hora 4b, 036 01, Martin, Slovak Republic.
  • Valkovic P; 2nd Department of Neurology, Comenius University and University Hospital in Bratislava, Bratislava, Slovak Republic.
  • Skorvánek M; Centre of Experimental Medicine, Institute of Normal and Pathological Physiology, Slovak Academy of Sciences, Slovak, Slovak Republic.
  • Ploski R; Department of Neurology, P.J. Safarik University and Louis Pasteur University Hospital, Kosice, Slovak Republic.
  • Kurca E; Department of Medical Genetics Laboratory, Medical University of Warsaw, Warsaw, Poland.
  • Sivák S; Clinic of Neurology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Kollárova 2, 036 01, Martin, Slovak Republic.
BMC Neurol ; 21(1): 293, 2021 Jul 27.
Article em En | MEDLINE | ID: mdl-34311727
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Proteínas Nucleares / Doença de Charcot-Marie-Tooth Tipo de estudo: Diagnostic_studies Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Proteínas Nucleares / Doença de Charcot-Marie-Tooth Tipo de estudo: Diagnostic_studies Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article