Published June 15, 2026
| Version v1
Poster
Open
Approaching Liquid Biopsy– A Comparative Overview of Current Biomarker Development in Myotonic Dystrophies
Authors/Creators
- 1. Friedrich‐Baur‐Institute, Department of Neurology, LMU Klinikum, Ludwig‐Maximilians‐University Munich, 80336 Munich, Germany
- 2. Department of Neurology, Berufsgenossenschaftliches University Hospital Bergmannsheil Bochum, Bochum, Germany
Description
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].
Files
DC13 Larsen IDMC-15.pdf
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(1.4 MB)
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