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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant.
Neurogenetics 22, 137-141 (2021)
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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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Camta1 ; Dystonia ; Myoclonus ; Neurodevelopmental Disorder
ISSN (print) / ISBN
1364-6745
e-ISSN
1364-6753
Zeitschrift
Neurogenetics
Quellenangaben
Band: 22,
Heft: 2,
Seiten: 137-141
Verlag
Springer
Verlagsort
One New York Plaza, Suite 4600, New York, Ny, United States
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Neurogenomics (ING)
Förderungen
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
Czech Ministry of Education
Charles University, Prague, Czech Republic
Helmholtz Zentrum Munchen, Munich, Germany
Technische Universitat Munchen, Munich, Germany