Stevenson, Roger E <br/><br/>
Arena syndrome is caused by a missense mutation in PLP1.  [electronic resource] 

 -  American journal of medical genetics. Part A  May 2009 
 - 1081 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.32795  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Basal Ganglia--metabolism<br/>DNA Mutational Analysis<br/>Exons--genetics<br/>Humans<br/>Iron--metabolism<br/>Magnetic Resonance Imaging<br/>Male<br/>X-Linked Intellectual Disability--genetics<br/>Mutation, Missense<br/>Myelin Proteolipid Protein--genetics<br/>Paraplegia--genetics<br/>Pelizaeus-Merzbacher Disease--genetics<br/>Syndrome<br/>Thalamus--metabolism