Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia
2024-04-18

Journal Article Accepted manuscript Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia Get access Felix Distelmaier, Felix Distelmaier Department of General Pediatrics and Neonatology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, 40225, Düsseldorf, GermanyWest German Center for Child and Adolescent Health, partner site, 40225, Düsseldorf, Germany Correspondence to: Felix Distelmaier, MD, Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Moorenstr. 5, 40225 Duesseldorf, Germany, E-mail: Felix.Distelmaier@med.uni-duesseldorf.de https://orcid.org/0000-0001-8460-3738 Search for other works by this author on: Oxford Academic PubMed Google Scholar Abdullah Sezer, Abdullah Sezer Department of Medical Genetics, Etlik City Hospital, 06170, Ankara, Turkey Search for other works by this author on: Oxford Academic PubMed Google Scholar Christina Helm, Christina Helm Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar Stephan Waldmüller, Stephan Waldmüller Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany https://orcid.org/0000-0002-9258-8547 Search for other works by this author on: Oxford Academic PubMed Google Scholar Annette Seibt, Annette Seibt Department of General Pediatrics and Neonatology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, 40225, Düsseldorf, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar Andrea Gangfuß, Andrea Gangfuß Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147, Essen, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar Heike Kölbel, Heike Kölbel Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147, Essen, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar Ulrike Schara-Schmidt, Ulrike Schara-Schmidt Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147, Essen, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar Deniz Yuksel, Deniz Yuksel Division of Pediatric Neurology, Department of Pediatrics, Etlik City Hospital, 06170, Ankara, Turkey Search for other works by this author on: Oxford Academic PubMed Google Scholar Beril Talim, Beril Talim Pediatric Pathology Unit, Department of Pediatrics, Hacettepe University, 06230, Ankara, Turkey Search for other works by this author on: Oxford Academic PubMed Google Scholar ... Show more Ertan Mayatepek, Ertan Mayatepek Department of General Pediatrics and Neonatology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, 40225, Düsseldorf, GermanyWest German Center for Child and Adolescent Health, partner site, 40225, Düsseldorf, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar Stefan Nikolin, Stefan Nikolin Institute of Neuropathology, RWTH Aachen University Hospital, 52074, Aachen, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar Joachim Weis, Joachim Weis Institute of Neuropathology, RWTH Aachen University Hospital, 52074, Aachen, Germany https://orcid.org/0000-0003-3280-6773 Search for other works by this author on: Oxford Academic PubMed Google Scholar Andreas Roos, Andreas Roos Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147, Essen, GermanyBrain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, K1H 8L1, CanadaDepartment of Neurology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, 40225, Düsseldorf, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar Tobias B Haack Tobias B Haack Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany Search for other works by this author on: Oxford Academic PubMed Google Scholar Brain, awae099, https://doi.org/10.1093/brain/awae099 Published: 18 April 2024 Article history Received: 15 March 2024 Accepted: 21 March 2024 Published: 18 April 2024