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Gene expression profiling of orbital muscles in treatment-resistant ophthalmoplegic myasthenia gravis.

Tarin A EuropaMelissa NelJeannine M Heckmann
Published in: Orphanet journal of rare diseases (2020)
The gene expression in orbital muscles derived from OP-MG individuals compared with normal controls, support the pathogenic hypothesis previously generated from whole genome sequence analyses. Repression of gene transcripts in OP-MG orbital muscle implicate tissue-specific regulatory mechanisms, which may inform future biomarker discovery approaches.
Keyphrases
  • gene expression
  • myasthenia gravis
  • dna methylation
  • genome wide
  • small molecule
  • skeletal muscle
  • current status
  • single cell
  • amino acid