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A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy.
Wang, Haicui; Schänzer, Anne; Kampschulte, Birgit; Daimagüler, Hülya-Sevcan; Logeswaran, Thushiha; Schlierbach, Hannah; Petzinger, Jutta; Ehrhardt, Harald; Hahn, Andreas; Cirak, Sebahattin.
Afiliação
  • Wang H; Department of Pediatrics, University Hospital Cologne, Kerpener Straße 62, 50937, Cologne, Germany.
  • Schänzer A; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931, Cologne, Germany.
  • Kampschulte B; Institute of Neuropathology, Justus Liebig University Giessen, Arndtsr.16, 35392, Giessen, Germany.
  • Daimagüler HS; Department of General Pediatrics and Neonatology, Center of Child and Youth Medicine, Justus Liebig University, Giessen, Germany.
  • Logeswaran T; Department of Pediatrics, University Hospital Cologne, Kerpener Straße 62, 50937, Cologne, Germany.
  • Schlierbach H; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Robert-Koch-Str. 21, 50931, Cologne, Germany.
  • Petzinger J; Department of Pediatric Cardiology, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany.
  • Ehrhardt H; Institute of Neuropathology, Justus Liebig University Giessen, Arndtsr.16, 35392, Giessen, Germany.
  • Hahn A; Department of General Pediatrics and Neonatology, Center of Child and Youth Medicine, Justus Liebig University, Giessen, Germany.
  • Cirak S; Department of General Pediatrics and Neonatology, Center of Child and Youth Medicine, Justus Liebig University, Giessen, Germany.
Acta Neuropathol Commun ; 6(1): 83, 2018 08 29.
Article em En | MEDLINE | ID: mdl-30157964
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Serina-Treonina Quinases / Doenças do Sistema Nervoso Periférico / Miopatias Congênitas Estruturais / Proteínas Musculares / Mutação / Cardiomiopatias Tipo de estudo: Etiology_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Serina-Treonina Quinases / Doenças do Sistema Nervoso Periférico / Miopatias Congênitas Estruturais / Proteínas Musculares / Mutação / Cardiomiopatias Tipo de estudo: Etiology_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article