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Titel:

Update on KMT2B-Related Dystonia.

Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't; Review
Autor(en):
Zech, Michael; Lam, Daniel D; Winkelmann, Juliane
Abstract:
PURPOSE OF REVIEW: To summarize the molecular and clinical findings of KMT2B-related dystonia (DYT-KMT2B), a newly identified genetic dystonia syndrome. RECENT FINDINGS: Since first described in 2016, 66 different KMT2B-affecting variants, encompassing a set of frameshift, nonsense, splice-site, missense, and deletion mutations, have been reported in 76 patients. Most mutations are de novo and expected to mediate epigenetic dysregulation by inducing KMT2B haploinsufficiency. DYT-KMT2B is charact...     »
Zeitschriftentitel:
Curr Neurol Neurosci Rep
Jahr:
2019
Band / Volume:
19
Heft / Issue:
11
Volltext / DOI:
doi:10.1007/s11910-019-1007-y
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/31768667
Print-ISSN:
1528-4042
TUM Einrichtung:
Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann); Neurologische Klinik und Poliklinik
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