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Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant.
Averdunk, Luisa; Donkervoort, Sandra; Horn, Denise; Waldmüller, Stephan; Syeda, Safoora; Neuhaus, Sarah B; Chao, Katherine R; van Riesen, Anne; Gauck, Darja; Haack, Tobias; Japp, Anna S; Lee, Unaa; Bönnemann, Carsten G; Mayatepek, Ertan; Distelmaier, Felix.
Afiliación
  • Averdunk L; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, University Hospital, Düsseldorf, Germany.
  • Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States.
  • Horn D; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
  • Waldmüller S; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
  • Syeda S; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
  • Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States.
  • Chao KR; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States.
  • van Riesen A; Center for Chronically Sick Children, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Gauck D; Department of Pediatric Neurology, University Medical Center Göttingen, Göttingen, Germany.
  • Haack T; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
  • Japp AS; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
  • Lee U; Institute of Pathology, University Hospital Düsseldorf, Düsseldorf, Germany.
  • Bönnemann CG; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, University Hospital, Düsseldorf, Germany.
  • Mayatepek E; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States.
  • Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University, University Hospital, Düsseldorf, Germany.
Neuropediatrics ; 53(5): 309-320, 2022 10.
Article en En | MEDLINE | ID: mdl-35605965
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Artrogriposis / Contractura / Enfermedades Musculares Límite: Humans / Newborn Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Artrogriposis / Contractura / Enfermedades Musculares Límite: Humans / Newborn Idioma: En Año: 2022 Tipo del documento: Article