Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion
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DOI: 10.1002/ana.26461
Abstract: Duchenne muscular dystrophy (DMD) exon 45–55 deletion (del45–55) has been postulated as a model that could treat up to 60% of DMD patients, but the associated clinical variability and complications require clarification. We aimed to… read more here.
Keywords: dmd exon; modifying factors; exon deletion; phenotypes modifying ... See more keywords
DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism
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DOI: 10.1016/j.nmd.2021.12.004
Abstract: We report the case of a patient with dystrophinopathy caused by DMD exon 2 duplication, showing marked asymmetric muscle atrophy. Immunostaining of the biopsied muscle tissue showed a mosaic staining, suggesting a somatic mosaicism. Polymerase… read more here.
Keywords: rearrangement; duplication; dmd exon; somatic mosaicism ... See more keywords
Absence of significant off-target splicing variation with a U7snRNA vector targeting DMD exon 2 duplications.
Sign Up to like & getrecommendations! Published in 2021 at "Human gene therapy"
DOI: 10.1089/hum.2020.315
Abstract: Exon skipping therapies for Duchenne muscular dystrophy that restore an open reading frame can be induced by the use of non-coding U7 small nuclear RNA (U7snRNA) modified by an antisense exon-targeting sequence delivered by an… read more here.
Keywords: vector; splicing variation; dmd exon; target ... See more keywords