Format

Send to

Choose Destination
Acta Neuropathol. 2016 Sep;132(3):475-8. doi: 10.1007/s00401-016-1602-9. Epub 2016 Aug 2.

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

Author information

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. markus.schuelke@charite.de.
8
Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany. markus.schuelke@charite.de.
PMID:
27484770
DOI:
10.1007/s00401-016-1602-9
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Springer
Loading ...
Support Center