Premium
Molecular genetics in muscular dystrophy research: Revolutionary progress
Author(s) -
Stedman Hansell,
Sarkar Satyapriya
Publication year - 1988
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880110704
Subject(s) - muscular dystrophy , molecular genetics , duchenne muscular dystrophy , pathogenesis , biology , disease , genetics , positional cloning , computational biology , bioinformatics , neuroscience , medicine , pathology , gene , phenotype , immunology
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 break‐throughs.