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Book Cover
Author Emery, Alan E. H., author

Title Duchenne muscular dystrophy / Alan E.H. Emery, Francesco Muntoni, Rosaline Quinlivan
Edition Fourth edition
Published Oxford : Oxford University Press, 2015


Description 1 online resource (ix, 308 pages) : illustrations
Series Oxford monographs on medical genetics ; 67
Oxford monographs on medical genetics ; no. 67.
Contents Symbols and abbreviations -- Introduction to Duchenne muscular dystrophy -- 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. Egen Klassifikation Scale Version (EK2) -- The North Star Ambulatory Assessment -- Muscular dystrophy associations and groups in various countries (2013)
Summary "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"--Publisher's description
Notes Previous edition: 2003
Bibliography Includes bibliographical references and index
Notes English
Description based on online resource; title from resource home page (ProQuest Ebook Central, viewed June 19, 2020)
Subject Duchenne muscular dystrophy.
Diagnosis, Differential.
Muscular Dystrophy, Duchenne -- history
Muscular Dystrophy, Duchenne -- diagnosis
Muscular Dystrophy, Duchenne -- genetics
Diagnosis, Differential
Muscular Dystrophy, Duchenne
MEDICAL -- Gynecology & Obstetrics.
Diagnosis, Differential
Duchenne muscular dystrophy
Form Electronic book
Author Muntoni, Francesco (Paediatric neurologist), author.
Quinlivan, Rosaline, author.
LC no. 2014954274
ISBN 9780191503658