Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation.
作者信息
Marcé-Grau Anna, Correa Marta, Vanegas Maria Isabel, Muñoz-Ruiz Teresa, Ferrer-Aparicio Silvia, Baide Heidy, Macaya Alfons, Pérez-Dueñas Belén
机构信息
Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Universitat Autònoma de Barcelona, Spain.
Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Universitat Autònoma de Barcelona, Spain; Faculty of Medicine, Universitat Autònoma de Barcelona, Unitat Docent Vall d'Hebròn, Spain.
出版信息
Parkinsonism Relat Disord. 2019 Apr;61:7-9. doi: 10.1016/j.parkreldis.2019.01.004. Epub 2019 Jan 8.
Abstract
摘要
Zotero 插件