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Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
Kremer, Laura S; Distelmaier, Felix; Alhaddad, Bader; Hempel, Maja; Iuso, Arcangela; Küpper, Clemens; Mühlhausen, Chris; Kovacs-Nagy, Reka; Satanovskij, Robin; Graf, Elisabeth; Berutti, Riccardo; Eckstein, Gertrud; Durbin, Richard; Sauer, Sascha; Hoffmann, Georg F; Strom, Tim M; Santer, René; Meitinger, Thomas; Klopstock, Thomas; Prokisch, Holger; Haack, Tobias B.
Affiliation
  • Kremer LS; Institute of Human Genetics, Technische Universität München, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany.
  • Alhaddad B; Institute of Human Genetics, Technische Universität München, 81675 München, Germany.
  • Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Iuso A; Institute of Human Genetics, Technische Universität München, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Küpper C; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, 80336 Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), 80336 Munich, Germany; DZNE - German Center for Neurodegenerative Diseases, 80336 Munich, Germany.
  • Mühlhausen C; University Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Kovacs-Nagy R; Institute of Human Genetics, Technische Universität München, 81675 München, Germany.
  • Satanovskij R; Institute of Human Genetics, Technische Universität München, 81675 München, Germany.
  • Graf E; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Berutti R; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Eckstein G; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Durbin R; Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
  • Sauer S; Max-Planck-Institute for Molecular Genetics, Otto-Warburg Laboratory, 14195 Berlin, Germany; CU Systems Medicine, University of Würzburg, 97080 Würzburg, Germany.
  • Hoffmann GF; Department of General Pediatrics, Division of Pediatric Metabolic Medicine and Neuropediatrics, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Strom TM; Institute of Human Genetics, Technische Universität München, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Santer R; University Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Meitinger T; Institute of Human Genetics, Technische Universität München, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Munich Cluster for Systems Neurology (SyNergy), 80336 Munich, Germany. Electronic address: meitinger@helmholtz-muenchen.de.
  • Klopstock T; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, 80336 Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), 80336 Munich, Germany; DZNE - German Center for Neurodegenerative Diseases, 80336 Munich, Germany.
  • Prokisch H; Institute of Human Genetics, Technische Universität München, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Haack TB; Institute of Human Genetics, Technische Universität München, 81675 München, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
Am J Hum Genet ; 98(2): 358-62, 2016 Feb 04.
Article de En | MEDLINE | ID: mdl-26805782
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Troubles du rythme cardiaque / Allèles / Mutation / Cardiomyopathies Type d'étude: Diagnostic_studies / Prognostic_studies Limites: Child, preschool / Female / Humans / Infant / Male Langue: En Journal: Am J Hum Genet Année: 2016 Type de document: Article Pays d'affiliation: Allemagne
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Troubles du rythme cardiaque / Allèles / Mutation / Cardiomyopathies Type d'étude: Diagnostic_studies / Prognostic_studies Limites: Child, preschool / Female / Humans / Infant / Male Langue: En Journal: Am J Hum Genet Année: 2016 Type de document: Article Pays d'affiliation: Allemagne