Patent ID: 7727719
Filing Date: 2010-06-01
Classification: C07K,C12Q,G01N

Abstract:
1. A method for assessing a human subjects's risk for paroxysmal dystonic choreoathetosis comprising providing a sample from a human subject, and detecting in said sample the presence of a myofibrillogenesis regulator 1 (MR-1) gene sequence variation, wherein said MR-1gene is SEQ ID NO:1, wherein said MR-1 gene sequence variation encodes a polymorphic MR-1 protein comprising SEQ ID NO:6 or SEQ ID NO:7 or SEQ ID NO:8, wherein the presence of said MR-1 gene sequence variation encoding said polymorphic MR-1 protein indicates an increased risk for paroxysmal dystonic choreoathetosis.