Functional characterization of rare RAB12 variants and their role in musician’s and other dystonias

URN to cite this document:: urn:nbn:de:bvb:355-epub-416519
DOI to cite this document:: 10.5283/epub.41651

Hebert, E. ; Borngräber, F. ; Schmidt, Alexander ; Größer, Leopold

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Date of publication of this fulltext: 19 Feb 2020 09:17

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Abstract

Mutations in RAB (member of the Ras superfamily) genes are increasingly recognized as cause of a variety of disorders including neurological conditions. While musician’s dystonia (MD) and writer’s dystonia (WD) are task-specific movement disorders, other dystonias persistently affect postures as in cervical dystonia. Little is known about the underlying etiology. Next-generation sequencing ...