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A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.
Knierim, Ellen; Gill, Esther; Seifert, Franziska; Morales-Gonzalez, Susanne; Unudurthi, Sathya D; Hund, Thomas J; Stenzel, Werner; Schuelke, Markus.
Afiliación
  • Knierim E; NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
  • Gill E; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Augustenburger Platz 1, 13353, Berlin, Germany.
  • Seifert F; NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
  • Morales-Gonzalez S; NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
  • Unudurthi SD; NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
  • Hund TJ; The Dorothy M. Davis Heart and Lung Research Institute, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
  • Stenzel W; Department of Biomedical Engineering, College of Engineering, The Ohio State University, Columbus, OH, USA.
  • Schuelke M; The Dorothy M. Davis Heart and Lung Research Institute, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Hum Genet ; 136(7): 903-910, 2017 07.
Article en En | MEDLINE | ID: mdl-28540413
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Congénitas / Espectrina / Sordera / Genes Recesivos / Enfermedades Musculares / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans / Male Idioma: En Revista: Hum Genet Año: 2017 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Alemania
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Congénitas / Espectrina / Sordera / Genes Recesivos / Enfermedades Musculares / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Animals / Humans / Male Idioma: En Revista: Hum Genet Año: 2017 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Alemania