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Open Access
Peer-reviewed
Research Article
Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation
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Dirk J. Lefeber ,
Contributed equally to this work with: Dirk J. Lefeber, Arjan P. M. de Brouwer
* E-mail: D.Lefeber@neuro.umcn.nl
Affiliations Department of Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Arjan P. M. de Brouwer ,
Contributed equally to this work with: Dirk J. Lefeber, Arjan P. M. de Brouwer
Affiliation Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, The Netherlands
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Eva Morava,
Affiliation Department of Pediatrics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Moniek Riemersma,
Affiliation Department of Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Janneke H. M. Schuurs-Hoeijmakers,
Affiliation Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, The Netherlands
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Birgit Absmanner,
Affiliation Department of Cell Biology and Plant Biochemistry, University of Regensburg, Regensburg, Germany
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Kiek Verrijp,
Affiliation Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Willem M. R. van den Akker,
Affiliation Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, The Netherlands
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Karin Huijben,
Affiliation Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Gerry Steenbergen,
Affiliation Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Jeroen van Reeuwijk,
Affiliation Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, The Netherlands
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Adam Jozwiak,
Affiliation Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland
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Nili Zucker,
Affiliation Heart Institute, Schneider Children's Medical Centre of Israel, Petach Tikwa, Israel
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Avraham Lorber,
Affiliation Metabolic Unit and Unit of Pediatric Cardiology, Meyer Children's Hospital, Rambam Medical Center, Technion–Israel Institute of Technology, Haifa, Israel
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Martin Lammens,
Affiliation Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Carlos Knopf,
Affiliation Metabolic Unit and Unit of Pediatric Cardiology, Meyer Children's Hospital, Rambam Medical Center, Technion–Israel Institute of Technology, Haifa, Israel
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Hans van Bokhoven,
Affiliation Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, The Netherlands
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Stephanie Grünewald,
Affiliation Great Ormond Street Hospital, UCL Institute of Child Health, University College London, London, United Kingdom
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Ludwig Lehle,
Affiliation Department of Cell Biology and Plant Biochemistry, University of Regensburg, Regensburg, Germany
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Livia Kapusta,
Affiliation Pediatric Cardiology Unit, Edith Wolfson Medical Center, Holon, Israel
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Hanna Mandel ,
¶These authors also contributed equally to this work.
Affiliation Metabolic Unit and Unit of Pediatric Cardiology, Meyer Children's Hospital, Rambam Medical Center, Technion–Israel Institute of Technology, Haifa, Israel
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Ron A. Wevers
¶These authors also contributed equally to this work.
Affiliation Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation
- Dirk J. Lefeber,
- Arjan P. M. de Brouwer,
- Eva Morava,
- Moniek Riemersma,
- Janneke H. M. Schuurs-Hoeijmakers,
- Birgit Absmanner,
- Kiek Verrijp,
- Willem M. R. van den Akker,
- Karin Huijben,
- Gerry Steenbergen
- Published: December 29, 2011
- https://doi.org/10.1371/journal.pgen.1002427