Transcriptome analysis of collagen VI-related muscular dystrophy muscle biopsies.
Eleonora GuadagninPayam MohasselKory R JohnsonLin YangMariarita SantiPrech UapinyoyingJahannaz DastgirYing HuAllissa DillmannMark R CooksonA Reghan FoleyCarsten G BönnemannPublished in: Annals of clinical and translational neurology (2021)
Overall, our study establishes the prominent dysregulation of extracellular matrix genes, TGFβ signaling, and its downstream cellular pathways at the transcriptomic level in COL6-RD muscle.