About the Authors
- Anna Rajab
-
Contributed equally to this work with: Anna Rajab, Volker Straub
Affiliation Genetics Unit, Ministry of Health, Directorate General of Health Affairs, Royal Hospital, Muscat, Oman
- Volker Straub
-
Contributed equally to this work with: Anna Rajab, Volker Straub
Affiliation Institute of Human Genetics, International Center for Life, Newcastle University, Newcastle upon Tyne, United Kingdom
- Liza J. McCann
-
Affiliation Department of Rheumatology, Alder Hey Children's Hospital, Liverpool, United Kingdom
- Dominik Seelow
-
Affiliations Department of Neuropediatrics, Charité University Medical School, Berlin, Germany, NeuroCure Clinical Research Center, Charité University Medical School, Berlin, Germany
- Raymonda Varon
-
Affiliation Institute of Human Genetics, Charité University Medical School, Berlin, Germany
- Rita Barresi
-
Affiliation Institute of Human Genetics, International Center for Life, Newcastle University, Newcastle upon Tyne, United Kingdom
- Anne Schulze
-
Affiliation Muscle Research Unit, Experimental and Clinical Research Center, Charité University Medical School, Berlin, Germany
- Barbara Lucke
-
Affiliations Department of Neuropediatrics, Charité University Medical School, Berlin, Germany, NeuroCure Clinical Research Center, Charité University Medical School, Berlin, Germany
- Susanne Lützkendorf
-
Affiliations Department of Neuropediatrics, Charité University Medical School, Berlin, Germany, NeuroCure Clinical Research Center, Charité University Medical School, Berlin, Germany
- Mohsen Karbasiyan
-
Affiliation Institute of Human Genetics, Charité University Medical School, Berlin, Germany
- Sebastian Bachmann
-
Affiliations Department of Anatomy, Charité University Medical School, Berlin, Germany, Core Facility for Electron Microscopy, Charité University Medical School, Berlin, Germany
- Simone Spuler
-
Affiliation Muscle Research Unit, Experimental and Clinical Research Center, Charité University Medical School, Berlin, Germany
- Markus Schuelke
-
* E-mail: markus.schuelke@charite.de
Affiliations Department of Neuropediatrics, Charité University Medical School, Berlin, Germany, NeuroCure Clinical Research Center, Charité University Medical School, Berlin, Germany
Competing Interests
The authors have declared that no competing interests exist.
Author Contributions
Conceived and designed the experiments: VS RV RB SB SS MS. Performed the experiments: RB AS BL SL MK MS. Analyzed the data: VS DS RV RB AS BL SL SB SS MS. Contributed reagents/materials/analysis tools: AR LJM DS MS. Wrote the paper: VS MS. Recruited patients and performed the patient investigations: AR VS LJM MS. Performed the bioinformatic analysis: DS.