Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Satya Vemula
PROVIDER: E-GEOD-43771 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Vemula Satya R SR Puschmann Andreas A Xiao Jianfeng J Zhao Yu Y Rudzińska Monika M Frei Karen P KP Truong Daniel D DD Wszolek Zbigniew K ZK LeDoux Mark S MS
Human molecular genetics 20130227 12
The vast majority of patients with primary dystonia are adults with focal or segmental distribution of involuntary movements. Although ~10% of probands have at least one first- or second-degree relative to dystonia, large families suited for linkage analysis are exceptional. After excluding mutations in known primary dystonia genes (TOR1A, THAP1 and CIZ1), whole-exome sequencing identified a GNAL missense mutation (c.682G>T, p.V228F) in an African-American pedigree with clinical phenotypes that ...[more]