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Author

Lisbeth Ramirez-Carvajal

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Jul 2026

Tissue-specific CTG•CAG expansion rate and disease severity are modified by DNA repair genes expression levels in myotonic dystrophy type 1 patients.

It is confirmed that MSH3, PMS2, and FAN1 act as key modifiers not only of somatic expansion, especially in skeletal muscle, but also of DM1 severity, and represent promising therapeutic targets for modulating disease progression.

Melissa Palma-Jiménez, Lisbeth Ramirez-Carvajal, Hailey Olafson et al. · 0 citations

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