Duis, Jessica <br/><br/>
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.  [electronic resource] 

 -  Annals of neurology  Oct 2016 
 - 633-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1531-8249 
<br/><br/><label>Standard No.: </label>10.1002/ana.24744  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Apnea--genetics<br/>Child, Preschool<br/>Deglutition Disorders--genetics<br/>Developmental Disabilities--genetics<br/>Fatal Outcome<br/>Female<br/>Frameshift Mutation<br/>Humans<br/>Infant<br/>Kinesins--genetics<br/>Male<br/>Mitochondrial Diseases--complications<br/>Muscle Hypotonia--genetics<br/>Mutation<br/>Myoclonus--genetics<br/>Optic Nerve--abnormalities