Bénit, Paule <br/><br/>
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.  [electronic resource] 

 -  Human mutation  Jun 2003 
 - 582-6 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.10225  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Age of Onset<br/>Amino Acid Sequence<br/>Base Sequence<br/>Brain Diseases--genetics<br/>Cardiomyopathy, Hypertrophic--genetics<br/>Consanguinity<br/>Electron Transport--genetics<br/>Electron Transport Complex I<br/>Fatal Outcome<br/>Female<br/>Homozygote<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Molecular Sequence Data<br/>Mutation--genetics<br/>NADH, NADPH Oxidoreductases--chemistry<br/>Protein Subunits--genetics<br/>RNA Splice Sites--genetics