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Duchenne Muscular Dystrophy

Autor Alan E. H. Emery, Francesco Muntoni
en Limba Engleză Hardback – 3 sep 2003
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 inunderstanding 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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Specificații

ISBN-13: 9780198515319
ISBN-10: 0198515316
Pagini: 282
Ilustrații: numerous halftones and line drawings
Dimensiuni: 161 x 240 x 20 mm
Greutate: 0.62 kg
Ediția:Third.
Editura: Oxford University Press
Colecția OUP Oxford
Locul publicării:Oxford, United Kingdom

Recenzii

Over the past 20 years or so Alan E.H. Emery's monograph has been an indispensable introduction into the theme for the novice and a reliable reference book for the expert . . . the third edition . . . clearly benefits from the complementing expertise of its authors - a medical geneticist who has witnessed most of the clinical improvements and all of the basic molecular findings of the past decades and a child neurologist who runs one of the largest neuro-paediatric units in Europe. The historical attempts to understand this complex disease are well-presented and set the stage for our current - still fragmentary - understanding. This is complemented with clinical data from own observation and with paradigmatic photographs.The book can be highly recommended further on as a comprehensive introduction to every clinician who is confronted with muscular dystrophy patients and any geneticist who wants to study one of the most multifarious genetic disorders.
This book is for all individuals who participate in the care of a boy with DMD, regardless of the discipline involved. I think it should be rated as a guide or reference book to be kept at hand at all times.
. . . [a] reference book to be kept to hand at all times.
Both these authors have huge clinical experience and scientific knowledge and this shines through in the text . . . This book is a classic of clinical neurology combining science and art. It will certainly be enjoyed by everyone in the team caring for families with DMD.
Duchenne muscular dystrophy deserves continuing detailed discussion in such a monograph, as it is a paradigm for understanding and investigating molecular genetic disorders, and as it has such far-reaching effects on the child and family. This book's span and clarity should recommend it to all those involved in the multidisciplinary care of boys with Duchenne muscular dystrophy, and to their families too. One hopes that it should be accessible and available to those professionalswho first see these boys and on whom we depend first to suspect the diagnosis.
This book is extremely comprehensive . . . Such a practical and comprehensive book will not only be useful for lawyers acting for children, but also for the families affected by Duchenne Muscular Dystrophy, social workers, parents and carers.
. . . lucid writing . . . This book's span and clarity should recommned it to all those involved in the multidisciplinary care of boys with Duchenne muscular dystrophy, and to their families too.

Notă biografică

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 r s1tics.