Angebault, Claire <br/><br/>
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.  [electronic resource] 

 -  Human molecular genetics  Jul 2015 
 - 3948-55 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddv133  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Apoptosis Regulatory Proteins--genetics<br/>Child<br/>Child, Preschool<br/>Dyskinesias--genetics<br/>Electron Transport Complex I--deficiency<br/>Female<br/>Follow-Up Studies<br/>Humans<br/>Image Processing, Computer-Assisted<br/>Magnetic Resonance Imaging<br/>Mitochondrial Diseases--genetics<br/>Muscle Hypotonia--genetics<br/>Mutation<br/>NADH, NADPH Oxidoreductases--genetics<br/>Open Reading Frames<br/>Pedigree