Hallmann, Kerstin <br/><br/>
A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.  [electronic resource] 

 -  Neurology  Dec 2014 
 - 2183-7 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/WNL.0000000000001055  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amino Acyl-tRNA Synthetases--genetics<br/>DNA, Mitochondrial--genetics<br/>Epilepsies, Myoclonic--etiology<br/>Female<br/>Homozygote<br/>Humans<br/>MERRF Syndrome--complications<br/>Male<br/>Mitochondria--genetics<br/>Mutation--genetics<br/>Pedigree<br/>RNA Splicing--genetics<br/>Young Adult