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It is shown that muscle stem cells are activated and fuse with existing muscle fibres in myotonic dystrophy type 1, producing centrally located nuclei with altered gene-expression states and reshaping diseased muscle.
A cardinal sign of myotonic dystrophy type 1 (DM1) is myotonia, slow muscle relaxation after voluntary contraction. Myotonia results from mis-regulated splicing of chloride channel 1 (ClC-1), leading to loss of channel function and runs of involuntary action potentials in muscle fibers. Preceding the onset of weakness,...
The selection of L-CMD iPSCs is expanded, disease-associated readouts are validated using a transgene-free differentiation protocol and gene editing strategies are assessed using 2D and 3D cultures, providing an advanced, humanised platform for translational research and precision medicine in laminopathies.
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