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Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion

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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… Click to show full 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 understand the phenotypes and potential modifying factors of this dystrophinopathy subset.

Keywords: dmd exon; modifying factors; exon deletion; phenotypes modifying; dystrophinopathy phenotypes

Journal Title: Annals of Neurology
Year Published: 2022

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