Kim, D S <br/><br/>
POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG.  [electronic resource] 

 -  Neurology  Mar 2004 
 - 1009-11 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1526-632X 
<br/><br/><label>Standard No.: </label>10.1212/01.wnl.0000115386.28769.65  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Action Potentials<br/>Brain--abnormalities<br/>Child, Preschool<br/>Conserved Sequence<br/>Creatine Kinase--blood<br/>Cytoskeletal Proteins--deficiency<br/>DNA Mutational Analysis<br/>Dystroglycans<br/>Electroencephalography<br/>Eye Abnormalities--genetics<br/>Humans<br/>Immunoblotting<br/>Immunohistochemistry<br/>Japan<br/>Magnetic Resonance Imaging<br/>Male<br/>Mannosyltransferases--genetics<br/>Membrane Glycoproteins--deficiency<br/>Muscular Dystrophies--congenital<br/>Nervous System Malformations--diagnosis<br/>Syndrome