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

Autor: Straussberg R; Neurology Institute, Schneider Children's Medical Center of Israel and Sackler School of Medicine, Tel Aviv University, Petah Tikva, Israel., Schottmann G; Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany., Sadeh M; Department of Neurology, Wolfson Medical Center, Holon, Israel., Gill E; Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany., Seifert F; Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany., Halevy A; Neurology Institute, Schneider Children's Medical Center of Israel and Sackler School of Medicine, Tel Aviv University, Petah Tikva, Israel., Qassem K; Neurology Institute, Schneider Children's Medical Center of Israel and Sackler School of Medicine, Tel Aviv University, Petah Tikva, Israel., Rendu J; Biochimie Génétique et Moléculaire, Département de Biochimie Toxicologie et Pharmacologie Centre Hospitalier Universitaire Grenoble Alpes, Université Grenoble Alpes, Grenoble, France., van der Ven PF; Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, Bonn, Germany., Stenzel W; Institute of Neuropathology, Charité-Universitätsmedizin Berlin, Berlin, Germany., Schuelke M; 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.
Jazyk: angličtina
Zdroj: Acta neuropathologica [Acta Neuropathol] 2016 Sep; Vol. 132 (3), pp. 475-8. Date of Electronic Publication: 2016 Aug 02.
DOI: 10.1007/s00401-016-1602-9
Databáze: MEDLINE