De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient

Parkinsonism Relat Disord. 2019 Jul:64:337-339. doi: 10.1016/j.parkreldis.2019.03.018. Epub 2019 Mar 25.

Authors

Christine Klein¹, Hauke Baumann¹, Luisa Olschewski¹, Henrike Hanssen², Alexander Münchau¹, Andreas Ferbert³, Norbert Brüggemann², Katja Lohmann⁴

Affiliations

¹ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
² Institute of Neurogenetics, University of Lübeck, Lübeck, Germany; Department of Neurology, University Hospital Schleswig-Holstein, Campus Lübeck, Germany.
³ Department of Neurology, Klinikum Kassel, Kassel, Germany.
⁴ Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. Electronic address: katja.lohmann@neuro.uni-luebeck.de.

PMID: 30935829
DOI: 10.1016/j.parkreldis.2019.03.018

No abstract available

Keywords: Consanguinity; De-novo mutation; Dyscalculia; Gene expression; Generalized dystonia; KMT2B.

Publication types

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

MeSH terms

Adult
Afghanistan
Consanguinity
Dyscalculia / diagnosis
Dyscalculia / genetics*
Dyscalculia / physiopathology
Dystonic Disorders / diagnosis
Dystonic Disorders / genetics*
Dystonic Disorders / physiopathology
Female
Follow-Up Studies
Histone-Lysine N-Methyltransferase / genetics*
Humans
Pedigree

Substances

Histone-Lysine N-Methyltransferase
KMT2B protein, human