Articles with "gene dystrophinopathy" as a keyword



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DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians

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Published in 2023 at "Journal of Clinical Neuromuscular Disease"

DOI: 10.1097/cnd.0000000000000436

Abstract: Abstract The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic testing in approximately 95% of cases. Although specific mutations can be associated with skeletal muscle phenotype, pulmonary and cardiac comorbidities (leading… read more here.

Keywords: dmd gene; gene dystrophinopathy; severity; systematic review ... See more keywords