Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion.

Samya ChakravortyKiera BergerDalia ArafatBabi Ramesh Reddy NallamilliHari Prasanna SubramanianSoumya JosephMary E AndersonKevin P CampbellJonathan GlassGreg GibsonMadhuri Hegde

Published in: Muscle & nerve (2019)

Our study shows the importance of considering aCGH for GNE-myopathies, and the potential of RNA-seq for faster, definitive molecular diagnosis of unusual myopathies. Muscle Nerve, 2019.

Keyphrases

rna seq
single cell
skeletal muscle
late onset
transcription factor