De novo SPAST mutations may cause a complex SPG4 phenotype.
作者信息
Schieving Jolanda H, de Bot Susanne T, van de Pol Laura A, Wolf Nicole I, Brilstra Eva H, Frints Suzanna G, van Gaalen Judith, Misra-Isrie Mala, Pennings Maartje, Verschuuren-Bemelmans Corien C, Kamsteeg Erik-Jan, van de Warrenburg Bart P, Willemsen Michèl A
机构信息
Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Department of Pediatric Neurology, Nijmegen, The Netherlands.
Leiden University Medical Center, Department of Neurology, Leiden, The Netherlands.
出版信息
Brain. 2019 Jul 1;142(7):e31. doi: 10.1093/brain/awz140.
PMID:31157359
Abstract
摘要
Zotero 插件