Comparative overview identifies biomarker development pathways in myotonic dystrophies, indicating future directions.
Myotonic dystrophies (DM) are multisystemic disorders caused by pathological repeat expansions in DMPK and CNBP leading to DM1 and DM2, respectively. Despite substantial phenotypic overlap between the two disease forms, symptom severity and frequency vary. DM1 and DM2 share RNA-mediated alternative splicing pathology, largely attributed to transcribed repeat expansions disrupting the balance between MBNL and CELF1 proteins[1–3].
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Larsen et al. (2026) studied this question.
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