1. Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany
2. Center for Rare Diseases Ruhr (CeSER), 44791 Bochum, Germany
3. Department of Neuropediatrics, University Children’s Hospital, Ruhr-University Bochum, 44801 Bochum, Germany
4. Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44801 Bochum, Germany
5. Institute of Medical Genetics and Applied Genomics, University Tübingen, 72074 Tübingen, Germany
6. NGS Competence Center Tübingen, 72076 Tübingen, Germany