@article{e8973b4737474749b45848adb8081c67,
title = "Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects",
author = "Rachel Straussberg and Gudrun Schottmann and Menachem Sadeh and Esther Gill and Franziska Seifert and Ayelet Halevy and Kaiyal Qassem and John Rendu and \{van der Ven\}, \{Peter F.M.\} and Werner Stenzel and Markus Schuelke",
note = "Funding Information: The authors thank the patients and their family for participating in the study. We gratefully acknowledge the expert technical support of Angelika Zwirner and Corinna Preu{\ss}e. The study was supported by the Deutsche Forschungsgemeinschaft (SFB665 TP C4 and Exc 257) to MS.",
year = "2016",
month = sep,
day = "1",
doi = "10.1007/s00401-016-1602-9",
language = "אנגלית",
volume = "132",
pages = "475--478",
journal = "Acta Neuropathologica",
issn = "0001-6322",
publisher = "Springer Science and Business Media Deutschland GmbH",
number = "3",
}