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

We describe for the first time a myoclonic dystonia-predominant phenotype associated with a novelCAMTA1 sequence variant. Furthermore, by identifying an additional, recurrentCAMTA1 sequence variant in an individual with a more typical neurodevelopmental disease manifestation, we contribute to the elucidation of phenotypic variability associated withCAMTA1 gene mutations.

http://link.springer.com/10.1007/s10048-021-00637-6

Source: Neurogenetics - March 6, 2021 Category: Genetics & Stem Cells Source Type: research