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- W2013153957 abstract "The contribution of reverse genetic strategies to neuromuscular disease research is evident in the progression of breakthroughs that have recently culminated in the cloning of the Duchenne muscular dystrophy (DMD) cDNA. The resultant improvements in our understanding of the genetic basis of Becker muscular dystrophy (BMD) and DMD serve as models for similar investigation of other heritable disorders. These genetic advances have outpaced concurrent work on the molecular pathogenesis of the dystrophic process, with the curious result that inferences about the DMD protein's amino acid sequence have preceded any information about its function or intracellular localization. In recognition that this foundation sets the stage for the rapid elucidation of the disease's pathogenesis, we review the experimental basis of such advances, with reference to relevant progress in basic myology, pathology, and molecular biology. We conclude with a view towards the ultimate clinical implications of these experimental breakthroughs." @default.
- W2013153957 created "2016-06-24" @default.
- W2013153957 creator A5002011992 @default.
- W2013153957 creator A5050498414 @default.
- W2013153957 date "1988-07-01" @default.
- W2013153957 modified "2023-09-26" @default.
- W2013153957 title "Molecular genetics in muscular dystrophy research: Revolutionary progress" @default.
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- W2013153957 doi "https://doi.org/10.1002/mus.880110704" @default.
- W2013153957 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/3043215" @default.
- W2013153957 hasPublicationYear "1988" @default.
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