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Neuropediatrics 2020; 51(03): 178-184
DOI: 10.1055/s-0039-3400979
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy

Lien Van Eyck*
1   Laboratory of Neurogenetics and Neuroinflammation, Sorbonne-Paris-Cité, Institut Imagine, Paris Descartes University, Paris, France
,
Francesco Bruni*
2   Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom
3   Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari Aldo Moro, Bari, Italy
,
Anne Ronan
4   Hunter Genetics Unit, HNELHD, Newcastle NSW Australia and Faculty of Health and Medicine, University of Newcastle, Newcastle, Australia
,
Tracy A. Briggs
5   Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom
6   Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom
,
Tony Roscioli
7   NeuRA, University of New South Wales, Sydney, Australia
8   Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, Australia
,
Gillian I. Rice
5   Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom
6   Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom
,
Grace Vassallo
9   Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester University Foundation Trust, Manchester, United Kingdom
,
Mathieu P. Rodero
1   Laboratory of Neurogenetics and Neuroinflammation, Sorbonne-Paris-Cité, Institut Imagine, Paris Descartes University, Paris, France
,
Langping He
2   Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom
,
Robert W. Taylor
2   Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom
10   Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom
,
John H. Livingston
11   Department of Paediatric Neurology, Leeds General Infirmary, Leeds, United Kingdom
,
2   Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom
12   Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom
,
Yanick J. Crow
1   Laboratory of Neurogenetics and Neuroinflammation, Sorbonne-Paris-Cité, Institut Imagine, Paris Descartes University, Paris, France
13   Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom
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