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From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1.
Kettwig, Matthias; Schubach, Max; Zimmermann, Franz A; Klinge, Lars; Mayr, Johannes A; Biskup, Saskia; Sperl, Wolfgang; Gärtner, Jutta; Huppke, Peter.
Affiliation
  • Kettwig M; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, Faculty of Medicine, Georg August University, Göttingen, Germany. Electronic address: matthias.kettwig@med.uni-goettingen.de.
  • Schubach M; Center for Genomics and Transcriptomics, CeGaT GmbH, Tuebingen, Germany.
  • Zimmermann FA; Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria.
  • Klinge L; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, Faculty of Medicine, Georg August University, Göttingen, Germany.
  • Mayr JA; Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria.
  • Biskup S; Center for Genomics and Transcriptomics, CeGaT GmbH, Tuebingen, Germany.
  • Sperl W; Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria.
  • Gärtner J; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, Faculty of Medicine, Georg August University, Göttingen, Germany.
  • Huppke P; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, Faculty of Medicine, Georg August University, Göttingen, Germany.
Mitochondrion ; 21: 12-8, 2015 Mar.
Article in En | MEDLINE | ID: mdl-25583628
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitochondrial Diseases / Apoptosis Inducing Factor / Genetic Diseases, Inborn Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Male / Newborn Language: En Journal: Mitochondrion Year: 2015 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mitochondrial Diseases / Apoptosis Inducing Factor / Genetic Diseases, Inborn Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Male / Newborn Language: En Journal: Mitochondrion Year: 2015 Document type: Article