Sawyer, Sarah L <br/><br/>
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.  [electronic resource] 

 -  Human molecular genetics  Sep 2015 
 - 5109-14 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddv229  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Exome<br/>GTP Phosphohydrolases--genetics<br/>Genetic Association Studies<br/>High-Throughput Nucleotide Sequencing<br/>Homozygote<br/>Humans<br/>Lipomatosis, Multiple Symmetrical--complications<br/>Magnetic Resonance Imaging<br/>Male<br/>Middle Aged<br/>Mitochondrial Proteins--genetics<br/>Mutation<br/>Nervous System Diseases--etiology<br/>Phenotype<br/>Siblings<br/>Young Adult