Invited Review
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Molecular genetics in muscular dystrophy research: Revolutionary progress
Dr. Hansell Stedman MD,
Dr. Satyapriya Sarkar PhD,
Dr. Hansell Stedman MD
Department of Human Genetics, University of Pennsylvania School of Medicine, and Department of Surgery, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorCorresponding Author
Dr. Satyapriya Sarkar PhD
Department of Anatomy and Cellular Biology, Tufts University School of Medicine, Boston, Massachusetts
Department of Anatomy and Cellular Biology, Tufts University School of Medicine, 136 Harrison Avenue, Boston, MA 02111Search for more papers by this authorDr. Hansell Stedman MD,
Dr. Satyapriya Sarkar PhD,
Dr. Hansell Stedman MD
Department of Human Genetics, University of Pennsylvania School of Medicine, and Department of Surgery, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
Search for more papers by this authorCorresponding Author
Dr. Satyapriya Sarkar PhD
Department of Anatomy and Cellular Biology, Tufts University School of Medicine, Boston, Massachusetts
Department of Anatomy and Cellular Biology, Tufts University School of Medicine, 136 Harrison Avenue, Boston, MA 02111Search for more papers by this authorAbstract
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 break-throughs.
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