Duchenne Muscular Dystrophy
Series: Oxford Monographs on Medical Genetics;
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Product details:
- Edition number 4
- Publisher OUP Oxford
- Date of Publication 19 February 2015
- ISBN 9780199681488
- Binding Hardback
- No. of pages320 pages
- Size 241x162x20 mm
- Weight 690 g
- Language English 0
Categories
Short description:
Fully revised and updated the new edition of Duchenne Muscular Dystrophy discusses the recent advances in the field of molecular biology for prenatal diagnosis and genetic counselling to the recent pioneering work with anti-sense oligonucleotides, and the possibility of effective RNA therapy.
MoreLong description:
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.
Table of Contents:
Introduction
History of the disease
Clinical features
Confirmation of the diagnosis
Differential diagnosis
Involvement of tissues other than skeletal muscle
Biochemistry of Duchenne muscular dystrophy
Genetics
Molecular pathology
Pathogenesis
Prevention
Genetic counselling
Management
Appendices
