Figure (IMAGE)
Caption
Aberrant CpG methylation upstream of the expanded CTG repeats dysregulates transcription at the repeat locus in both directions, thereby increasing toxic RNA burden. Additionally, enhanced RNA toxicity upregulated the interleukin-6 (IL-6) myokine signaling pathway, which is involved in myocyte maturation and muscle atrophy, resulting in severe CDM phenotypes.
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Osaka University
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