Figure (IMAGE)

Osaka University

Figure

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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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