Chakravorty, Samya <br/><br/>
Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion.  [electronic resource] 

 -  Muscle & nerve  07 2019 
 - 98-103 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1097-4598 
<br/><br/><label>Standard No.: </label>10.1002/mus.26486  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Comparative Genomic Hybridization<br/>Distal Myopathies--diagnosis<br/>Dystroglycans--metabolism<br/>Family<br/>Gene Deletion<br/>Glycosylation<br/>Humans<br/>Male<br/>Molecular Diagnostic Techniques<br/>Multienzyme Complexes--genetics<br/>Promoter Regions, Genetic--genetics<br/>Quadriceps Muscle--pathology<br/>Sequence Analysis, RNA<br/>Young Adult