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Oxford Monographs on Medical Genetics (Epub & Pdf)

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Duchenne Muscular Dystrophy - Oxford Monographs on Medical Genetics by Alan E. H. Emery Details

Duchenne Muscular Dystrophy, a genetic disease of chronic and progressive muscle, is one of the most common genetic disorders in the developed world. In this fourth edition of the classic…

Duchenne Muscular Dystrophy synopsis

Duchenne Muscular Dystrophy, a genetic disease of chronic and progressive muscle, is one of the most common genetic disorders in the developed world. In this fourth edition of the classic study on this subject, Alan Emery and Francesco Montoni were joined by Rosalyn Quinlivan, consultant of neuromuscular disorders, to provide a comprehensive update on all aspects of the disorder.

A recent understanding of the nature of the genetic defect responsible for muscular dystrophy and dystrophin isolation has led to the development of new theories of the disease. This new edition includes these advances in the field of molecular biology, describing opportunities from screening, prenatal diagnosis, genetic counseling, recent pioneering work with anti-sense oligonucleotides, and the possibility of effective RNA treatment.

Although there is no cure for this disorder, there have been significant developments with respect to the genetic basis, dissemination of care guidelines and management improvements that lead to much longer survival, particularly with pulmonary heart care. Researchers are also investigating other forms of pharmacological, cellular and genetic treatments.

Duchenne muscular dystrophy will be necessary for reading not only for scientists and doctors, but it also attracts therapists and other professionals involved in the care of patients with muscular atrophy.



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