A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia

Mov Disord. 2017 Oct;32(10):1495-1497. doi: 10.1002/mds.27137. Epub 2017 Sep 18.

Authors

Lara M Lange¹, Sinem Tunc^{1

2}, Stephanie Tennstedt³, Alexander Münchau^{1

2}, Christine Klein^{1

2}, Birgit Assmann⁴, Katja Lohmann¹

Affiliations

¹ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
² Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, Germany.
³ Institute for Cardiogenetics, University of Lübeck, Lübeck, Germany.
⁴ Department of Neuropediatrics, University Children's Hospital, Heidelberg, Germany.

PMID: 28921672
DOI: 10.1002/mds.27137

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't
Video-Audio Media

MeSH terms

Child
DNA Mutational Analysis
Dystonia / genetics*
Female
Histone-Lysine N-Methyltransferase / genetics*
Humans
Sequence Deletion / genetics*

Substances

Histone-Lysine N-Methyltransferase
KMT2B protein, human