Duchenne Muscular Dystrophy

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OUP Oxford, Sep 4, 2003 - Medical - 282 pages
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Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this third edition of the classic monograph on the topic, Alan Emery is joined by Francesco Muntoni, Professor of Paediatric Neurology, to provide a thorough update on all aspects of the disorder. Identification of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin have led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and management. Although there is still no cure for the disorder, there have been significant developments in understanding the progression of the disease, and advances in the management of respiratory and cardiac complications. Emery and Muntoni also explore and speculate on the possibilities for future treatments employing drugs and gene therapies. This book will appeal not only to scientists and clinicians, but also to a wide range of therapists and other professionals involved in the care of patients with muscular dystrophy.

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About the author (2003)


Alan Emery is Emeritus Professor of Human Genetics and has authored or edited 18 books on medical genetics and neuromuscular disease, including the classics Emery's Elements of Medical Genetics, now in its 10th edition, and Emery and Remoin's Principles and Practice of Medical Genetics. Francesco Muntoni is Professor of Paediatric Neurology at the Dubowitz Neuromuscular Centre in London. Professor Muntoni has an extensive list of publications in the field of neuromuscular disorders and ongoing active research interest in molecular aspects of DMD.

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