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 fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder.
Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has 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 from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies.
Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy.
“A highly specialized book like this requires expertise and a unique perspective, and there are no comparable books. The authors have been able to present the information concisely and simply, resulting in an easy to read book. It would take seasoned medical geneticists and neurologists little time to review it. Weighted Numerical Score: 98 – 5 Stars!” — Luis F. Escobar, Doody’s
About the Author
Alan E. H. Emery, Emeritus Professor of Human Genetics, University of Edinburgh, Honorary Fellow, Green Templeton College, Oxford and Honorary Visiting Fellow, Peninsula College of Medicine, Plymouth, UK,Francesco Muntoni, Professor and Honorary Consultant in Paediatric Neurology, UCL Institute of Child Health and Great Ormond Street Hospital Foundation Trust, London, UK,Rosaline C. M. Quinlivan, Consultant in Neuromuscular Disorders, Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, and Dubowitz Neuromuscular Centre, Great Ormond Street Foundation Trust, London UK
Alan EH Emery is a qualified physician, scientist and educator with wide experience of patient care and human genetics laboratory research. In 1966 he was first to describe a unique form of Emery-Dreifuss muscular dystrophy and to discover a significant biochemical defect linked to the pathogenesis of Duchenne muscular dystrophy. On this he wrote the first detailed scientific monograph in 1987 (Duchenne Muscular Dystrophy, Oxford University Press; 4th edition, 2014) and in 1989 founded the European Neuromuscular Centre to research related disorders. He has published over 400 scientific papers and written or edited 30 books regarding clinical, biochemical and genetic studies in neuromuscular disorders. For his work over the last 40 years he has received many national and international awards, including the Lifetime Achievement Award of the World Federation of Neurology. He is currently a Vice-President of the Muscular Dystrophy Campaign of Great Britain.
۱ Introduction to Duchenne muscular dystrophy
۲ History of the disease
۳ Clinical features
۴ Confirmation of the diagnosis
۵ Differential diagnosis
۶ Involvement of tissues other than skeletal muscle
۷ Biochemistry of Duchenne muscular dystrophy
۹ Molecular pathology
۱۲ Genetic counselling
Appendix 1 Egen Klassifikation Scale Version 2 (EK2)
Appendix 2 The North Star Ambulatory Assessment
Appendix 3 Muscular Dystrophy Associations and Groups in Various Countries (2013)
لینک کوتاه : https://bookbaz.ir/?p=65084
نویسنده : Alan E. H. Emery
ناشر : Oxford University Press; 4 edition
سال انتشار : 2015
زبان کتاب : انگلیسی
نوع فایل : PDF
تعداد صفحات : 320
(ISBN) شابک : 0199681481
قیمت کتاب درآمازون : $83.86
حجم فایل : 7 MB