Myopathies : new research / edited by Howard S. Washington and Chris E. Castillo Jimenez.

Description based on print version record and CIP data provided by publisher.

Includes bibliographical references and index.

MYOPATHIES: NEW RESEARCH; MYOPATHIES: NEW RESEARCH; Library of Congress Cataloging-in-Publication Data; CONTENTS; PREFACE; Chapter 1: INHERITED MYOPATHIES; ABSTRACT; INTRODUCTION; CONDITIONAL/ACQUIRED MYOPATHIES; Alcoholic Rhabdomyolysis; Drug Abuse-trigerred Myopathies; HEREDITARY MYOPATHIES; CONCLUSION; ACKNOWLEDGMENTS; REFERENCES; Chapter 2: NEW VISTAS IN UNDERSTANDING THE PATHOPHYSIOLOGY OF VALOSIN-CONTAINING PROTEIN (VCP)/P97 DISEASE; ABSTRACT; INTRODUCTION; CLINICAL PHENOTYPES OF VALOSIN-CONTAINING PROTEIN (VCP)/P97 DISEASE; EMERGING FUNCTIONS OF THE VCP/P97; DISEASE MUTATIONS OF VCP.

STUDIES OF THE CELLULAR PATHOLOGY IN VCP DISEASEVCP DISEASE MOUSE MODELS; SUMMARY; BIBLIOGRAPHY AND REFERENCES; Chapter 3: MUSCLE BIOPSY: DIAGNOSTIC VALUE IN SUSPECTED MYOPATHIES; ABSTRACT; ABBREVIATIONS; INTRODUCTION; 1. GENERAL PRINCIPLES OF MUSCLE BIOPSY; 1.1. Indications, Contraindications; 1.2. Muscle Biopsy Procedure; 1.3. Selection of Muscle to Biopsy; 1.4. Sample Handling; 1.5. Light Microscopic (LM) Procedures; 1.6. Electron Microscopic (EM) Evaluation; 1.7. Molecular Tests; 2. RETROSPECTIVE ANALYSIS OF MUSCLE BIOPSIES BETWEEN 2000-2010; 2.1. Patients; 2.2. Methods; 2.3. Results.

CONCLUSIONACKNOWLEDGMENT; REFERENCES; Chapter 4: INFLAMMATION IN DYSFERLINOPATHIES:WHAT CAN WE LEARN FROM ANIMAL MODELS?; ABSTRACT; INTRODUCTION; INFLAMMATION AND DYSFERLINOPATHIC MICE; DYSFERLIN DEFICIENT MONOCYTES/MACROPHAGES; ALTERNATIVE VESICULAR TRAFFICKINGPATHWAY UPREGULATION; INFLAMMASOME UPREGULATION; COMPLEMENT ACTIVATION; CONCLUSION; REFERENCES; Chapter 5: THE ABC OF MITOCHONDRIAL DISORDERS; ABSTRACT; LIST OF ABBREVIATIONS; WHAT ARE MITOCHONDRIAL DISORDERS?; WHY IS MITOCHONDRIAL GENETICS SO COMPLEX?; HAVE ENVIRONMENTAL FACTORS A ROLE?; WHICH IS THE DIAGNOSTIC APPROACH?

IS MUSCLE BIOPSY ALWAYS NEEDED?HOW TO MANAGE A MITOCHONDRIAL PATIENT?; WHAT PERSPECTIVES IN MITOCHONDRIAL MEDICINE?; REFERENCES; Chapter 6: DYSPHAGIA IN THE MYOPATHIES*; ABSTRACT; INTRODUCTION; ANATOMOPHYSIOLOGY OF SWALLOWING; DYSPHAGIA IN THE MYOPATHIES; PHONOAUDIOLOGIC EVALUATION OF DYSPHAGIA; PHONOAUDIOLOGIC REHABILITATION; REFERENCES; Chapter 7: aB-CRYSTALLIN (HSPB5) AND MYOFIBRILLAR MYOPATHIES; ABSTRACT; INTRODUCTION; 1. MYOFIBRILLAR MYOPATHIES; 2. ABNORMAL ACCUMULATION OF MULTIPLE PROTEINS IN MFM; 3. MUTANT aB-CRYSTALLIN AS A CAUSE OF MYOFIBRILLAR MYOPATHY.

4. aB-CRYSTALLIN IS ALSO ABNORMALLY EXPRESSED IN MFM NOT ASSOCIATED WITH MUTATIONS IN CRYAB, AND IN OTHER MYOPATHIES WITH PROTEIN AGGREGATES5. INCREASED HSP EXPRESSION PARALLELS ENDOPLASMIC RETICULUM STRESS RESPONSES; 6. aB-CRYSTALLIN DEGRADATION IN MFM; CONCLUSION; ACKNOWLEDGMENTS; REFERENCES; INDEX.

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