Duchenne Muscular Dystrophy

Hardcover | March 19, 2015

byAlan E. H. Emery, Francesco Muntoni, Rosaline C. M. Quinlivan

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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 developmentsconcerning 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.

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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...

Alan E.H. 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...

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Format:HardcoverDimensions:320 pages, 9.21 × 6.14 × 0.82 inPublished:March 19, 2015Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0199681481

ISBN - 13:9780199681488

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Table of Contents

1. Introduction2. History of the disease3. Clinical features4. Confirmation of the diagnosis5. Differential diagnosis6. Involvement of tissues other than skeletal muscle7. Biochemistry of Duchenne muscular dystrophy8. Genetics9. Molecular pathology10. Pathogenesis11. Prevention12. Genetic counselling13. ManagementAppendices