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

Neurogenetics. 2021 Mar 6. doi: 10.1007/s10048-021-00637-6. Epub ahead of print. PMID: 33677721.

Authors/Editors: Dzinovic I, Serranová T, Prouteau C, Colin E, Ziegler A, Winkelmann J, Jech R, Zech M.
Publication Date: 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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