Koide, Noriko <br/><br/>
Novel SGCE mutation (p.Glu65*) in a Japanese family with myoclonus-dystonia.  [electronic resource] 

 -  Pediatrics international : official journal of the Japan Pediatric Society  Sep 2017 
 - 1018-1020 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1442-200X 
<br/><br/><label>Standard No.: </label>10.1111/ped.13335  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child, Preschool<br/>Codon, Nonsense<br/>Dystonic Disorders--diagnosis<br/>Female<br/>Genetic Markers<br/>Humans<br/>Japan<br/>Male<br/>Sarcoglycans--genetics