Duchenne Muscular Dystrophy

Since the publication of the first edition of this book in 1987, the identification of the gene responsible for Duchenne muscular dys trophy and the characterization of the missing protein product, dystrophin, have revolutionized research in the field and led to a better understanding of this devastating genetic disease. Improved accuracy of carrier detection and prenatal diagnosis have had a significant impact on disease prevention. Now more than ever before, the goal of identifying a safe and effective long-term treatment for Duchenne muscular dystrophy seems attainable. The second edition of this book provides an up-to-date, well-organized review of the literature on Duchenne muscular dystrophy, supplemented with valuable contributions drawn from the author's experience. The clinical features, differential diagnosis, genetics, and molecular pathology of the disease are adequately covered. The discussion of the important topics of carrier detection, prenatal diagnosis, and genetic counseling is particularly useful. The multidisciplinary approach to the