Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

Author:

Nilsson Johanna1,Schoser Benedikt2,Laforet Pascal3,Kalev Ognian4,Lindberg Christopher5,Romero Norma B.6,Dávila López Marcela7,Akman Hasan O.8,Wahbi Karim9,Iglseder Stephan10,Eggers Christian10,Engel Andrew G.11,DiMauro Salvatore8,Oldfors Anders1

Affiliation:

1. Department of PathologyInstitute of Biomedicine, University of GothenburgGothenburg Sweden

2. Department of NeurologyFriedrich‐Baur‐Institute, Ludwig‐Maximilians‐UniversityMunich Germany

3. Paris‐Est Neuromuscular Reference CenterPitié‐Salpêtrière HospitalAP‐HPParis France

4. Department of Pathology and NeuropathologyState Neuropsychiatric Hospital Wagner‐JaureggLinz Austria

5. Department of NeurologyUniversity of Gothenburg, Sahlgrenska University HospitalGothenburg Sweden

6. Institute of Myology, National Institute of Health and Medical Research, Mixed Unit of Research 974, National Center for Scientific Research, Mixed Unit of Research 7215, Pierre and Marie Curie University, Pitié‐Salpêtrière Hospital Group, Public Assistance Hospitals of ParisParis France

7. Department of Medical Biochemistry and Cell BiologyInstitute of Biomedicine, University of GothenburgGothenburg Sweden

8. Department of NeurologyColumbia University Medical CenterNew York NY

9. APHP, Cochin Hospital, Cardiology Department, Paris, France and Paris‐DescartesSorbonne Paris Cité University75006Paris France

10. Department of NeurologyHospital of the Barmherzige BrüderLinz Austria

11. Department of NeurologyMayo Clinic College of MedicineRochester MN

Funder

Swedish Research Council

Publisher

Wiley

Subject

Clinical Neurology,Neurology

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