Monogenic variants in dystonia: an exome-wide sequencing study
Dystonia is a clinically and genetically heterogeneous condition that occurs in isolation or in combination with other movement disorders. We sequenced the exomes of 764 individuals with dystonia and 346 healthy parents who were recruited between June 1, 2015, and July 31, 2019. 104 (65%) of the 160 detected variants affected genes which are associated with neurodevelopmental disorders.

Related Post