TY  - GEN
AU  - Chakravorty,Samya
AU  - Berger,Kiera
AU  - Arafat,Dalia
AU  - Nallamilli,Babi Ramesh Reddy
AU  - Subramanian,Hari Prasanna
AU  - Joseph,Soumya
AU  - Anderson,Mary E
AU  - Campbell,Kevin P
AU  - Glass,Jonathan
AU  - Gibson,Greg
AU  - Hegde,Madhuri
TI  - Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion
SN  - 1097-4598
PY  - 2019///1024
KW  - Comparative Genomic Hybridization
KW  - Distal Myopathies
KW  - diagnosis
KW  - Dystroglycans
KW  - metabolism
KW  - Family
KW  - Gene Deletion
KW  - Glycosylation
KW  - Humans
KW  - Male
KW  - Molecular Diagnostic Techniques
KW  - Multienzyme Complexes
KW  - genetics
KW  - Promoter Regions, Genetic
KW  - Quadriceps Muscle
KW  - pathology
KW  - Sequence Analysis, RNA
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/mus.26486
ER  -