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Titel:

Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.

Dokumenttyp:
Article; Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Dzinovic, Ivana; Serranová, Tereza; Prouteau, Clement; Colin, Estelle; Ziegler, Alban; Winkelmann, Juliane; Jech, Robert; Zech, Michael
Abstract:
Intragenic rearrangements and sequence variants in the calmodulin-binding transcription activator 1 gene (CAMTA1) can result in a spectrum of clinical presentations, most notably congenital ataxia with or without intellectual disability. We describe for the first time a myoclonic dystonia-predominant phenotype associated with a novel CAMTA1 sequence variant. Furthermore, by identifying an additional, recurrent CAMTA1 sequence variant in an individual with a more typical neurodevelopmental diseas...     »
Zeitschriftentitel:
Neurogenetics
Jahr:
2021
Band / Volume:
22
Heft / Issue:
2
Seitenangaben Beitrag:
137-141
Volltext / DOI:
doi:10.1007/s10048-021-00637-6
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33677721
Print-ISSN:
1364-6745
TUM Einrichtung:
Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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