title: Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.
authors.affiliation: Neurology Institute, Schneider Children's Medical Center of Israel and Sackler School of Medicine, Tel Aviv University, Petah Tikva, Israel.
authors.forename: Rachel
authors.initials: R
authors.lastname: Straussberg
authors.affiliation: Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: Gudrun
authors.initials: G
authors.lastname: Schottmann
authors.affiliation: Department of Neurology, Wolfson Medical Center, Holon, Israel.
authors.forename: Menachem
authors.initials: M
authors.lastname: Sadeh
authors.affiliation: Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: Esther
authors.initials: E
authors.lastname: Gill
authors.affiliation: Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: Franziska
authors.initials: F
authors.lastname: Seifert
authors.affiliation: Neurology Institute, Schneider Children's Medical Center of Israel and Sackler School of Medicine, Tel Aviv University, Petah Tikva, Israel.
authors.forename: Ayelet
authors.initials: A
authors.lastname: Halevy
authors.affiliation: Neurology Institute, Schneider Children's Medical Center of Israel and Sackler School of Medicine, Tel Aviv University, Petah Tikva, Israel.
authors.forename: Kaiyal
authors.initials: K
authors.lastname: Qassem
authors.affiliation: Biochimie Génétique et Moléculaire, Département de Biochimie Toxicologie et Pharmacologie Centre Hospitalier Universitaire Grenoble Alpes, Université Grenoble Alpes, Grenoble, France.
authors.forename: John
authors.initials: J
authors.lastname: Rendu
authors.affiliation: Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, Bonn, Germany.
authors.forename: Peter F M
authors.initials: PF
authors.lastname: van der Ven
authors.affiliation: Institute of Neuropathology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: Werner
authors.initials: W
authors.lastname: Stenzel
authors.affiliation: Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany. markus.schuelke@charite.de.|Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. markus.schuelke@charite.de.
authors.forename: Markus
authors.identifier: 0000-0003-2824-3891
authors.initials: M
authors.lastname: Schuelke
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005192:Family Health; D064448:Filamins / Q000378:metabolism; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009224:Myotonia Congenita / Q000235:genetics* / Q000473:pathology; D010447:Peptide Hydrolases / Q000235:genetics*; D055815:Young Adult
chemical_list: D064448:Filamins; C000621183:KY protein, human; D010447:Peptide Hydrolases