Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

Author:

Panneman Daan M.12ORCID,Wortmann Saskia B.1345,Haaxma Charlotte A.6,Hasselt Peter M.7,Wolf Nicole I.8ORCID,Hendriks Yvonne9,Küsters Benno10,Emst‐de Vries Sjenet211,Westerlo Els211,Koopman Werner J.H.211,Wintjes Liesbeth12,Brandt Frans12,Vries Maaike1,Lefeber Dirk J.612,Smeitink Jan A.M.1,Rodenburg Richard J.112

Affiliation:

1. Radboud Center for Mitochondrial Medicine, Department of PediatricsAmalia Children's Hospital Nijmegen the Netherlands

2. Radboud Institute for Molecular Life Sciences, Radboudumc Nijmegen the Netherlands

3. University Children's HospitalParacelcus Medical University (PMU) Salzburg Austria

4. Institute of Human GeneticsHelmholtz Zentrum München Neuherberg Germany

5. Institute of Human GeneticsTechnische Universität München Munich Germany

6. Department of Neurology, Donders Institute for BrainCognition and Behaviour Nijmegen the Netherlands

7. Department of Metabolic Diseases, Wilhelmina Children's Hospital UtrechtUniversity Medical Center Utrecht Utrecht the Netherlands

8. Department of Child Neurology, Emma Children's Hospital, Amsterdam UMC ‐ Locatie VUMC and Amsterdam NeuroscienceVrije Universiteit Amsterdam the Netherlands

9. Department of Clinical GeneticsAmsterdam UMC ‐ Locatie VUMC Amsterdam the Netherlands

10. Department of PathologyRadboudumc Nijmegen the Netherlands

11. Department of BiochemistryRaboudumc Nijmegen the Netherlands

12. Translational Metabolic Laboratory, Department of Laboratory MedicineRadboudumc Nijmegen the Netherlands

Funder

Prinses Beatrix Spierfonds

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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