Larrea, Delfina <br/><br/>
MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.  [electronic resource] 

 -  Human molecular genetics  06 2019 
 - 1782-1800 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddz008  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Charcot-Marie-Tooth Disease--genetics<br/>Endoplasmic Reticulum--genetics<br/>Energy Metabolism--genetics<br/>Female<br/>Fibroblasts--metabolism<br/>GTP Phosphohydrolases--genetics<br/>Genotype<br/>Humans<br/>Male<br/>Middle Aged<br/>Mitochondria--genetics<br/>Mitochondrial Dynamics--genetics<br/>Mitochondrial Membranes--metabolism<br/>Mitochondrial Proteins--genetics<br/>Mutation<br/>Oxidative Phosphorylation<br/>Severity of Illness Index