ASO-Mediated DNM2 Knockdown for Centronuclear Myopathies
Centronuclear myopathies (CNM) are a group of severe muscle diseases for which no effective therapy is currently available. We have previously shown that reduction of the large GTPase DNM2 in a mouse model of the X-linked form, due to loss of myotubularin phosphatase MTM1, prevents the development of the skeletal muscle pathophysiology. As DNM2 is mutated in autosomal dominant forms, here we tested whether DNM2 reduction can rescue DNM2-related CNM in a knock-in mouse harboring the p. R465W mutation (Dnm2RW/+) and displaying a mild CNM phenotype similar to patients with the same mutation.
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