학술논문
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia
Document Type
Article
Author
Dafsari, Hormos Salimi; Sprute, Rosanne; Wunderlich, Gilbert; Daimagüler, Hülya-Sevcan; Karaca, Ezgi; Contreras, Adriana; Becker, Kerstin; Schulze-Rhonhof, Mira; Kiening, Karl; Karakulak, Tülay; Kloss, Manja; Horn, Annette; Pauls, Amande; Nürnberg, Peter; Altmüller, Janine; Thiele, Holger; Assmann, Birgit; Koy, Anne; Cirak, Sebahattin
Source
Journal of Human Genetics; October 2019, Vol. 64 Issue: 10 p1051-1054, 4p
Subject
Language
ISSN
14345161; 1435232X
Abstract
Rapid progress has recently been made in the elucidation of the genetic basis of childhood-onset inherited generalized dystonia (IGD) due to the implementation of genomic sequencing methodologies. We identified four patients with childhood-onset IGD harboring novel disease-causing mutations in lysine-specific histone methyltransferase 2B gene (KMT2B) by whole-exome sequencing. The main focus of this paper is to gain novel pathophysiological insights through understanding the molecular consequences of these mutations.