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Zusatztext What has long been needed is a comprehensive yet readable account of the molecular and clinical features of the dystrophies. There can be few people as well suited to writing such a textbook on this group of disorders as Professor Emery: with support from a wealth of expertise gathered from around the world, he has attempted the daunting task of producing a piece of work which is accessible to the non-specialist and yet still taxing for the expert. We should be delighted that he has achieved all of these aims . . . This book will make a useful addition to any hospital library or personal collection. More importantly, it will provide an authoritative and wise voice for anyone interested in the muscular dystrophies. Klappentext 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 our 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 dianostic testing. The book goes on to describe the opportunities for management of the symptoms through respiratory care! physiotherapy and surgical correction of contracture! and examines the potential! in the future! 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. Zusammenfassung 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 our 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, in the future, 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....
