2. Academic Validation
  3. Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects

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

  • Acta Neuropathol. 2016 Sep;132(3):475-8. doi: 10.1007/s00401-016-1602-9.
Rachel Straussberg 1,  Gudrun Schottmann 2,  Menachem Sadeh 3,  Esther Gill 2,  Franziska Seifert 2,  Ayelet Halevy 1,  Kaiyal Qassem 1,  John Rendu 4,  Peter F M van der Ven 5,  Werner Stenzel 6,  Markus Schuelke 7 8
Affiliations

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].
PMID: 27484770 DOI: 10.1007/s00401-016-1602-9
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