Gene expression profiling of orbital muscles in treatment-resistant ophthalmoplegic myasthenia gravis.
Tarin A EuropaMelissa NelJeannine M HeckmannPublished 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.