부산대학교 도서관

Both DYT- I PRKRA i and DYT- I COL6A3 i were possibilities, however, the I COL6A3 i gene variant was of uncertain significance, whereas the I PRKRA i gene variant had been previously described as pathogenic, but was present in heterozygous state. Keywords: hereditary dystonia; PRKRA gene; pseudogene; deep brain stimulation; next-generation sequencing EN hereditary dystonia PRKRA gene pseudogene deep brain stimulation next-generation sequencing 703 706 4 07/14/22 20220701 NES 220701 A genetic etiology of isolated dystonia is suspected if there is an early-onset dystonia or a positive family history. PRKRAP1 Pseudogene Complicating the Diagnosis of Young-Onset Dystonia Due to PRKRA Gene Disease-Causing Variants (DYT-PRKRA). [Extracted from the article]