A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia

Author:

Neilson Derek E.1,Zech Michael23,Hufnagel Robert B.1,Slone Jesse1,Wang Xinjian1,Homan Shelli1,Gutzwiller Lisa M.4,Leslie Elizabeth J.5,Leslie Nancy D.1,Xiao Jianfeng6,Hedera Peter7,LeDoux Mark S.8,Gebelein Brian4,Wilbert Friederike9,Eckenweiler Matthias9,Winkelmann Juliane231011,Gilbert Donald L.12ORCID,Huang Taosheng1

Affiliation:

1. Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA

2. Institute of Neurogenomics Helmholtz Zentrum München Munich Germany

3. Institute of Human Genetics Technical University of Munich Munich Germany

4. Division of Developmental Biology Cincinnati Children's Hospital Medical Center Cincinnati Ohio USA

5. Department of Human Genetics Emory University School of Medicine Atlanta Georgia USA

6. Departments of Neurology and Anatomy and Neurobiology The University of Tennessee Health Science Center Memphis Tennessee USA

7. Department of Neurology University of Louisville Louisville Kentucky USA

8. Department of Psychology University of Memphis and Veracity Neuroscience LLC Memphis Tennessee USA

9. Department of Neuropediatrics and Muscle Disorders, University Medical Center, Faculty of Medicine University of Freiburg Freiburg im Breisgau Germany

10. Lehrstuhl für Neurogenetik Technische Universität München Munich Germany

11. Munich Cluster for Systems Neurology SyNergy, Munich Germany

12. Division of Neurology, Cincinnati Children's Hospital Medical Center, Department of Pediatrics University of Cincinnati College of Medicine Cincinnati Ohio USA

Funder

Benign Essential Blepharospasm Research Foundation

Cincinnati Children's Hospital Medical Center

Deutsche Forschungsgemeinschaft

Dystonia Medical Research Foundation

National Institutes of Health

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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