Neuropediatrics 2020; 51(03): 178-184
DOI: 10.1055/s-0039-3400979
DOI: 10.1055/s-0039-3400979
Original Article
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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