PMC:4385177 / 10921-11754 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4385177","sourcedb":"PMC","sourceid":"4385177","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4385177","text":"Despite the greater inherent biological plausibility of the variant in HPCA, we next attempted to find further confirmatory mutations in either candidate gene. To do so, we obtained dystonia samples (donated with research consent) from a DNA bank held at our institution. Despite the extensive nature of this clinical resource, the rarity of AR isolated dystonia meant that there were no other samples available from any other dystonia kindred in whom the inheritance pattern could definitively be said to be AR. We were therefore forced instead to select subjects for whom the history was merely “not incompatible” with AR inheritance (i.e., subjects with either no family history or a family history of affected siblings only). All subjects had been screened previously for mutations in TOR1A, and no mutations had been identified.","tracks":[]}