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Patient-derived 3D engineered human muscle model recapitulates <i>CLCN1</i> mis-splicing and myotonia in myotonic dystrophy type 1

2026-02-05

Abstract excerpt

Myotonic dystrophy type 1 (DM1) lacks human in vitro models that directly link RNA toxicity to mature skeletal muscle function, particularly myotonia. Here, we engineer contractile 3D human skeletal muscle tissues from immortalized myoblasts derived from three DM1 patients representing juvenile, adult, and late-onset subtypes. These tissues reproduce key molecular features of DM1, including nuclear RNA foci, MBNL...

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Literature Corpus work
1cb03b62-a9cd-5664-aad0-0a3d5578fb66
DOI
10.64898/2026.02.03.703003
Open publication

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Patient-derived 3D engineered human muscle model recapitulates <i>CLCN1</i> mis-splicing and myotonia in myotonic dystrophy type 1DOI 10.64898/2026.02.03.703003
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