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

Dzinovic, Ivana; Serranova, Tereza; Prouteau, Clement; Colin, Estelle; Ziegler, Alban; Winkelmann, Juliane; Jech, Robert und Zech, Michael (2021): Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant. In: Neurogenetics, Bd. 22, Nr. 2: S. 137-141

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 disease manifestation, we contribute to the elucidation of phenotypic variability associated with CAMTA1 gene mutations.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin > Munich Cluster for Systems Neurology (SyNergy)
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• Sprache: Englisch
• DFG: Gefördert durch die Deutsche Forschungsgemeinschaft (DFG) - 390857198