Debray, François-Guillaume <br/><br/>
Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene.  [electronic resource] 

 -  Mitochondrion  Jul 2014 
 - 101-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1872-8278 
<br/><br/><label>Standard No.: </label>10.1016/j.mito.2014.06.003  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Biopsy<br/>Codon, Nonsense<br/>Cytochrome-c Oxidase Deficiency<br/>DNA, Mitochondrial--chemistry<br/>Electron Transport Complex IV--genetics<br/>Female<br/>Frameshift Mutation<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Mitochondrial Encephalomyopathies--diagnosis<br/>Muscles--pathology<br/>Mutation