Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion. [electronic resource]
Producer: 20191024Description: 98-103 p. digitalISSN:- 1097-4598
- Comparative Genomic Hybridization
- Distal Myopathies -- diagnosis
- Dystroglycans -- metabolism
- Family
- Gene Deletion
- Glycosylation
- Humans
- Male
- Molecular Diagnostic Techniques
- Multienzyme Complexes -- genetics
- Promoter Regions, Genetic -- genetics
- Quadriceps Muscle -- pathology
- Sequence Analysis, RNA
- Young Adult
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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