Blok, M J <br/><br/>
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.  [electronic resource] 

 -  Journal of medical genetics  Apr 2007 
 - e74 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.2006.045716  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Animals<br/>Brain--abnormalities<br/>Child<br/>Chromatography, High Pressure Liquid<br/>DNA Mutational Analysis<br/>DNA, Mitochondrial--genetics<br/>Diseases in Twins<br/>Electron Transport Complex I--chemistry<br/>Fatal Outcome<br/>Female<br/>Genetic Testing<br/>Humans<br/>Hydrophobic and Hydrophilic Interactions<br/>Infant, Newborn<br/>Leigh Disease--genetics<br/>MELAS Syndrome--genetics<br/>Male<br/>Mitochondria, Muscle--enzymology<br/>Mitochondrial Diseases--genetics<br/>Mitochondrial Proteins--chemistry<br/>Molecular Sequence Data<br/>Mutation, Missense<br/>Oxidative Phosphorylation<br/>Phenotype<br/>Protein Subunits<br/>Sequence Alignment<br/>Sequence Homology, Amino Acid