Inventors:
John K. Fink - Ann Arbor MI, US
Shirley Rainier - Sylvania OH, US
Assignee:
The Regents of the University of Michigan - Ann Arbor MI
International Classification:
C12Q 1/00
Abstract:
The present invention provides compositions and methods for research, diagnostic, drug screening, and therapeutic applications related to paroxysmal dystonic choreoathetosis and related conditions. In particular, the present invention provides mutations in the myofibrillogenesis regulator 1 (MR-1) gene associated with such conditions.