Duchenne Muscular Dystrophy
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Author Description
Based on the author's study of some 200 patients and a detailed review of the literature, this volume provides a comprehensive and clinical account of all aspects of Duchenne muscular dystrophy--the second most common genetic disorder affecting humans. During the last decade, biochemists and molecular biologists have made a huge effort to understand the basic molecular defect. In 1986, when this book was first in press, Professor Emery was able to predict with some confidence that the locus of the gene responsible would soon be identified. The publication of this revised paperback edition offers the opportunity to bring his account up-to-date with a discussion of the isolation of the gene and its unexpected size and complexity, followed by the characterization of the related protein dystrophin, a component of skeletal muscle.
Menrva's Summary
THE THESIS
This volume investigates the clinical, genetic, and molecular foundations of Duchenne muscular dystrophy to provide a comprehensive overview of the disorder. Alan E. H. Emery, a recognized expert in medical genetics, synthesizes data from his personal study of 200 patients alongside an extensive review of existing medical literature. The text establishes a framework for understanding the pathology of the disease, tracing its progression from clinical observation to the identification of the responsible gene and the characterization of the protein dystrophin.
THE SCOPE MAP
What You Will Find
- Clinical manifestations and progression of Duchenne muscular dystrophy
- Molecular biology of the gene responsible for the disorder
- Analysis of the protein dystrophin in skeletal muscle
- Historical context of genetic research up to the late 1980s
Scope Limits
- Does not cover therapeutic developments or clinical trials occurring after the book's publication
- Excludes detailed discussion of non-Duchenne forms of muscular dystrophy
THE AUTHORITY PERSPECTIVE
Experts recognize this work as a foundational text for understanding the molecular basis of Duchenne muscular dystrophy during a critical period of genetic discovery. Readers frequently note the technical density of the prose, which is intended for medical professionals and researchers in the field of genetics.
Page Count:
336
Publication Date:
1988-12-29
Publisher:
Oxford University Press
ISBN-10:
0192617982
ISBN-13:
9780192617989
Science
Non-Fiction
Medical
Genetics
Neurology
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