The Anti-PNKD Antibody, Rabbit Polyclonal from MyBioSource.com is a Rabbit Polyclonal antibody. This antibody recognizes Human antigen. The Anti-PNKD Antibody, Rabbit Polyclonal has been shown to work in the following applications: Immunohistochemistry, and Immunohistochemistry - fixed.
Description
Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare movement disorder characterized by sudden attacks of involuntary movements. Familial PNKD is an autosomal dominant trait, caused by mutations in the myofibrillogenesis regulator 1 (MR-1) gene on chromosome 2q35. Myofibrillogenesis regulator-1 (MR-1), the gene responsible for PNKD, is transcribed into three alternatively spliced forms: long (MR-1L), medium (MR-1M), and small (MR-1S). PNKD is triggered by stress, fatigue, menstruation, or consumption of either alcohol or caffeine. Attacks last 1-4 h and consist of dramatic dystonia and choreoathetosis in the limbs, trunk, and face. The clinical features and genetic findings of PNKD, rarely described in the Asians, were mostly delineated from European families