Shahrour, M A <br/><br/>
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.  [electronic resource] 

 -  Clinical genetics  May 2017 
 - 690-696 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.12855  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenosine Triphosphatases--deficiency<br/>Carrier Proteins--genetics<br/>Child<br/>Child, Preschool<br/>Epilepsy--genetics<br/>Female<br/>Humans<br/>Infant<br/>Male<br/>Membrane Proteins--deficiency<br/>Membrane Transport Proteins--genetics<br/>Metabolism, Inborn Errors--genetics<br/>Mitochondrial Encephalomyopathies--genetics<br/>Mitochondrial Precursor Protein Import Complex Proteins<br/>Mitochondrial Proton-Translocating ATPases<br/>Mutation<br/>Polymorphism, Single Nucleotide<br/>Pregnancy