Emery and Rimoin's Principles and Practice of Medical Genetics 3 volumes set

The muscular dystrophies are an important group of inherited disorders. They are characterized by muscle wasting and weakness, but vary considerably in their clinical manifestations and severity. This text reviews out understanding of the most important of these disorders. In many instances, the genes and protein products responsible for the dystrophies have been identified and it is now possible to establish a precise diagnosis, detect preclinical cases, identify carriers and offer prenatal diagnostic testing. The book goes on to describe the opportunities for management of the symptoms through respiratory care, physiotherapy and surgical correction of contractures, and examines the potential for effective treatment utilizing the new, techniques of gene and cell therapy. Professor Emery has invited chapters from the leading international experts in the field providing a unique insight into the current situation and the hopes for the future.

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