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Dzinovic, I. ; Serranová, T.* ; Prouteau, C.* ; Colin, E.* ; Ziegler, A.* ; Winkelmann, J. ; Jech, R.* ; Zech, M.

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

Neurogenetics 22, 137-141 (2021)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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 disease manifestation, we contribute to the elucidation of phenotypic variability associated with CAMTA1 gene mutations.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Camta1 ; Dystonia ; Myoclonus ; Neurodevelopmental Disorder
ISSN (print) / ISBN 1364-6745
e-ISSN 1364-6753
Journal Neurogenetics
Quellenangaben Volume: 22, Issue: 2, Pages: 137-141 Article Number: , Supplement: ,
Publisher Springer
Publishing Place One New York Plaza, Suite 4600, New York, Ny, United States
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
Grants EJP RD, the European Joint Programme on Rare Diseases (EJP RD COFUND-EJP)
Czech Ministry of Education
Charles University, Prague, Czech Republic
Helmholtz Zentrum Munchen, Munich, Germany
Technische Universitat Munchen, Munich, Germany