Duchenne Muscular Dystrophy

by Emery, Alan E. H.

• ISBN13: 9780192617989
• ISBN10: 0192617982
• Format: Paperback
• Copyright: 1988-12-29
• Publisher: Oxford University Press

Summary

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.

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

Pathogenesis

Genetics

Molecular Pathology

Prevention

Genetic Counselling

Management

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