Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects

Affiliations

• ¹ Neurology Institute, Schneider Children's Medical Center of Israel and Sackler School of Medicine, Tel Aviv University, Petah Tikva, Israel.
• ² Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.
• ³ Department of Neurology, Wolfson Medical Center, Holon, Israel.
• ⁴ Biochimie Génétique et Moléculaire, Département de Biochimie Toxicologie et Pharmacologie Centre Hospitalier Universitaire Grenoble Alpes, Université Grenoble Alpes, Grenoble, France.
• ⁵ Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, Bonn, Germany.
• ⁶ Institute of Neuropathology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
• ⁷ Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany. [email protected].
• ⁸ Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. [email protected].