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

Affiliations

• ¹ Department of General Pediatrics and Neonatology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, 40225, Düsseldorf, Germany.
• ² West German Center for Child and Adolescent Health, partner site, 40225, Düsseldorf, Germany.
• ³ Department of Medical Genetics, Etlik City Hospital, 06170, Ankara, Turkey.
• ⁴ Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.
• ⁵ Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147, Essen, Germany.
• ⁶ Division of Pediatric Neurology, Department of Pediatrics, Etlik City Hospital, 06170, Ankara, Turkey.
• ⁷ Pediatric Pathology Unit, Department of Pediatrics, Hacettepe University, 06230, Ankara, Turkey.
• ⁸ Institute of Neuropathology, RWTH Aachen University Hospital, 52074, Aachen, 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, 40225, Düsseldorf, Germany.