Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia

Author:

Distelmaier Felix12ORCID,Sezer Abdullah3,Helm Christina4,Waldmüller Stephan4ORCID,Seibt Annette1,Gangfuß Andrea5,Kölbel Heike5,Schara-Schmidt Ulrike5,Yuksel Deniz6,Talim Beril7,Mayatepek Ertan12,Nikolin Stefan8,Weis Joachim8ORCID,Roos Andreas5910,Haack Tobias B4

Affiliation:

1. Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University , Düsseldorf 40225 , Germany

2. Department of General Pediatrics, West German Center for Child and Adolescent Health , partner site Düsseldorf, Düsseldorf 40225 , Germany

3. Department of Medical Genetics, Etlik City Hospital , Ankara, 06170 Turkey

4. Institute of Medical Genetics and Applied Genomics, University of Tübingen , Tübingen 72076 , Germany

5. Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen , Essen 45147 , Germany

6. Division of Pediatric Neurology, Department of Pediatrics, Etlik City Hospital , Ankara, 06170 , Turkey

7. Pediatric Pathology Unit, Department of Pediatrics, Hacettepe University , Ankara 06230 , Turkey

8. Institute of Neuropathology, RWTH Aachen University Hospital , Aachen 52074 , Germany

9. Brain and Mind Research Institute, Children’s Hospital of Eastern Ontario Research Institute , Ottawa, ON K1H 8L1 , Canada

10. Department of Neurology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University , Düsseldorf 40225 , Germany

Funder

German Research Foundation

Elterninitiative Kinderkrebsklinik e.V

Deutsche Gesellschaft für Muskelkranke

Publisher

Oxford University Press (OUP)

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