Charif, Majida <br/><br/>
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.  [electronic resource] 

 -  American journal of medical genetics. Part A  Oct 2015 
 - 2366-74 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.37188  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Cardiomyopathies--complications<br/>Carrier Proteins--genetics<br/>DNA Mutational Analysis<br/>Electron Transport Complex I--genetics<br/>Electron Transport Complex II--genetics<br/>Electron Transport Complex III--genetics<br/>Electron Transport Complex IV--genetics<br/>Female<br/>Gene Expression<br/>Homozygote<br/>Humans<br/>Intellectual Disability--complications<br/>Male<br/>Membrane Potential, Mitochondrial--genetics<br/>Middle Aged<br/>Mitochondria--metabolism<br/>Mutation<br/>Optic Disk--metabolism<br/>Optic Nerve Diseases--complications<br/>Pedigree<br/>RNA, Transfer, Phe--genetics<br/>RNA-Binding Proteins<br/>Visual Acuity