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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.

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第一作者： Elke,de Boer

第一单位： Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

作者： Elke,de Boer ^[1] ; Charlotte W,Ockeloen ^[2] ; Leslie,Matalonga ^[3] ; Rita,Horvath ^[4] ; Solve-RD SNV-indel working group ^[5] ; Richard J,Rodenburg ^[6] ; Marieke J H,Coenen ^[7] ; Mirian,Janssen ^[8] ; Dylan,Henssen ^[9] ; Christian,Gilissen ^[9] ; Wouter,Steyaert ^[3] ; Ida,Paramonov ^[10] ; Solve-RD-DITF-ITHACA ^[1] ; Aurélien,Trimouille ^[11] ; Tjitske,Kleefstra ^[1] ; Alain,Verloes ; Lisenka E L M,Vissers

作者单位： Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. ^[1] Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. charlotte.ockeloen@radboudumc.nl. ^[2] CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain. ^[3] Department of Clinical Neurosciences, University of Cambridge, John Van Geest Cambridge Centre for Brain Repair, Cambridge, UK. ^[4] Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands. ^[5] Department of Human Genetics, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. ^[6] Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands. ^[7] Department of Medical Imaging, Radboud University Medical Center, Nijmegen, The Netherlands. ^[8] Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. ^[9] Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.;MRGM, Maladies Rares: Génétique et Métabolisme, lNSERM U1211, Université de Bordeaux, Bordeaux, France. ^[10] Département de Génétique, APHP Robert DEBRE University Hospital and INSERM U1141, Paris, France. ^[11]