US 7,537,899 B2
Defects in periaxin associated with myelinopathies
James R. Lupski, Houston, Tex. (US); Cornelius F. Boerkoel, III, Houston, Tex. (US); and Hiroshi Takashima, Houston, Tex. (US)
Assigned to Baylor College of Medicine, Houston, Tex. (US)
Filed on Aug. 14, 2007, as Appl. No. 11/838,500.
Prior Publication US 2008/0057509 A1, Mar. 06, 2008
Int. Cl. C12Q 1/68 (2006.01); C12P 19/34 (2006.01); C07H 21/04 (2006.01)
U.S. Cl. 435—6  [435/91.2; 536/23.1; 536/23.44] 11 Claims
 
1. A method of diagnosing myelinopathy in an individual comprising the step of assaying a sample from the individual for an alteration in a periaxin polynucleotide, wherein said alteration is associated with said myelinopathy.