Muscle Biopsy
A Practical Approach
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For more than 45 years, Muscle Biopsy: A Practical Approach has offered, comprehensive, clinically-focused coverage of the acquisition, interpretation, and assessment of muscle biopsies – an area often only lightly covered in pathology texts. Taking an integrated approach that includes clinical, genetic, biochemical, and pathological features, the 5th Edition covers the full range of muscle disease in both adults and children. This highly illustrated, easy-to-use volume helps you navigate this challenging area, bridging the gap between clinical syndromes/disorders and their underlying pathologies.
Table of Contents
- Cover image
- Title page
- Table of Contents
- Half Title
- Copyright
- Preface to the Fifth Edition
- Acknowledgements
- List of Abbreviations
- List of Gene Symbols
- Section A. The Biopsy: Normal and Diseased Muscle
- 1. The Procedure of Muscle Biopsy
- The Evolving Role of Muscle Pathology
- The Procedure of Muscle Biopsy
- Selection of the Patient
- Selection of the Muscle
- Technique of Biopsy
- Preparation of Specimen
- Cutting the Sections
- Electron Microscopy
- Specimen Preparation for Electron Microscopy
- Resins
- Immunohistochemistry
- 2. Histological and Histochemical Stains and Reactions
- Histological Stains
- Histochemical Reactions
- Histological and Histochemical Methods
- 3. Normal Muscle
- Histological Structure
- Muscle Fibre Types
- Histochemical Identification of Muscle Fibre Types
- Ultrastructure of the Myofibre
- Development of Human Muscle
- 4. Histological and Histochemical Changes
- Changes in Fibre Shape and Size
- Changes in Fibre Type Patterns
- Changes in Sarcolemmal Nuclei
- Degeneration and Regeneration
- Fibrosis and Adipose Tissue
- Cellular Reactions
- Changes in Fibre Architecture and Structural Abnormalities
- Deficiencies of Enzymes
- Accumulation of Glycogen or Lipid
- Accumulation of Amyloid
- Common Artefacts in Muscle Biopsies
- 5. Ultrastructural Changes
- Sarcolemma
- Myofibrils and Associated Cytoskeleton
- Z Line
- Intermediate Filaments
- Nucleus
- Mitochondria
- Membrane Systems
- Deposits and Particles
- Other Unusual Structures
- 6. Immunohistochemistry and Immunoblotting
- Immunohistochemistry
- Methods for Immunohistochemistry
- Baselines for Interpretation
- Use of Tissues Other Than Muscle
- Pathological Features of Diseased Muscle
- Immunohistochemistry of Other Tissue Components
- Immunoblotting
- Quantification
- Panel of Antibodies to Apply
- 7. How to Read a Biopsy
- Part I
- Part II
- Part III
- Part IV
- Part V
- Section B. Pathological Muscle: Individual Diseases
- 8. Classification of Neuromuscular Disorders
- 9. Neurogenic Disorders
- General Pathological Features of Denervated Muscle
- Spinal Muscular Atrophy
- Histology and Histochemistry
- 10. Muscular Dystrophies and Allied Disorders I: Duchenne and Becker Muscular Dystrophy
- Background
- Clinical Features
- Histology and Histochemistry
- Immunohistochemistry
- Carriers of Duchenne and Becker Muscular Dystrophy
- Therapies for Duchenne Muscular Dystrophy
- 11. Muscular Dystrophies and Allied Disorders II: Limb-Girdle Muscular Dystrophies
- History and Background
- Histology and Histochemistry
- Immunohistochemistry
- 12. Muscular Dystrophies and Allied Disorders III: Congenital Muscular Dystrophies and Associated Disorders
- History and Background
- General Pathological Features of Congenital Muscular Dystrophies
- Congenital Muscular Dystrophies Associated with Sarcolemmal Proteins
- Congenital Muscular Dystrophies Associated with Abnormal Glycosylation of α-Dystroglycan
- Rigid Spine with Muscular Dystrophy (RSMD1)
- Congenital Muscular Dystrophies Associated with Nuclear Membrane Proteins
- Additional Forms of Congenital Muscular Dystrophy
- 13. Muscular Dystrophies and Allied Disorders IV: Emery–Dreifuss Muscular Dystrophy and Similar Syndromes
- Clinical Features
- Molecular Genetics
- Biochemistry
- Histopathology
- Immunohistochemistry
- Electron Microscopy
- Other Emery–Dreifuss-Like Syndromes
- 14. Muscular Dystrophies and Allied Disorders V: Facioscapulohumeral, Myotonic and Oculopharyngeal Muscular Dystrophies
- Facioscapulohumeral Muscular Dystrophy
- Myotonic Dystrophies
- Oculopharyngeal Muscular Dystrophy
- 15. Congenital Myopathies and Related Disorders
- Introduction
- Myopathies with Structural Defects
- Core Myopathies
- Nemaline Myopathies
- Myotubular/Centronuclear Myopathies
- Titin-related Congenital Myopathy
- Sarcotubular Myopathy
- Surplus Protein Myopathies
- Cap Disease
- Spheroid Body Myopathy
- Reducing Body Myopathy
- Congenital Fibre Type Disproportion
- Congenital Myopathies with Other Ultrastructural Abnormalities
- Novel Rare Congenital Myopathies
- Congenital Myopathies Characterized by Distal Involvement and/or Distal Arthrogryposis
- 16. Myofibrillar Myopathies and Other Myopathies with Rimmed Vacuoles
- Introduction
- Myofibrillar Myopathies
- Other Myopathies with Autophagic Vacuoles and/or Protein Aggregates
- 17. Metabolic Myopathies I: Glycogenoses
- Type II Glycogenosis (Pompe Disease, Acid Maltase Deficiency)
- Type III Glycogenosis (Debrancher Enzyme Deficiency)
- Type IV Glycogenosis (Branching Enzyme Deficiency)
- Type V Glycogenosis (McArdle Disease)
- Type VII Glycogenosis (Phosphofructokinase Deficiency)
- Type XIV Glycogenosis (Phosphoglucomutase 1 Deficiency)
- Type 0 Glycogenosis (Glycogen Synthase Deficiency)
- Type XV Glycogenosis (Glycogenin-1 Deficiency)
- RBCK1 (HOIL-1) Deficiency
- Other Glycogenoses with Neuromuscular Symptoms
- 18. Metabolic Myopathies II: Lipid-Related Disorders and Mitochondrial Myopathies
- Disorders of Muscle Lipid Metabolism
- Mitochondrial Myopathies
- 19. Myopathies Associated with Systemic Disorders and Ageing
- Endocrine Disorders
- Disorders of the Thyroid
- Disorders of the Pituitary and Adrenals
- Insulin-Associated Disorders
- Disorders of the Parathyroids, Osteomalacia and Vitamin Deficiencies
- Malignancy
- Amyloidosis
- Ageing and Cachexia
- 20. Ion Channel Disorders
- Syndromes with Non-Dystrophic Myotonia
- Periodic Paralysis Syndromes
- Disorders Associated with Calcium Homeostasis
- Malignant Hyperthermia
- Myoglobinuria/Rhabdomyolysis
- 21. Myasthenic Syndromes
- Myasthenia Gravis
- Lambert–Eaton Syndrome
- Acquired Neuromyotonia
- Congenital Myasthenic Syndromes
- 22. Inflammatory Myopathies
- Dermatomyositis
- Antisynthetase Syndrome
- Inclusion Body Myositis
- Immune-Mediated Necrotizing Myopathy
- Granulomatous Myositis
- Focal Myositis
- Macrophage Myofasciitis
- 23. Toxic and Drug-Induced Myopathies
- Classification
- Necrosis and Rhabdomyolysis
- Inflammation
- Mitochondrial Myopathy
- Myosin Heavy Chain Loss (Critical Illness Myopathy)
- Type 2 Fibre Atrophy
- Vacuolar Myopathies
- Neuromyopathy
- Focal Myopathy
- Appendix 1. Glossary of Genetic Terms
- Appendix 2. Useful Websites
- Index
Product details
- No. of pages: 600
- Language: English
- Copyright: © Elsevier 2020
- Published: May 28, 2020
- Imprint: Elsevier
- Hardcover ISBN: 9780702074714
- eBook ISBN: 9780702078583
About the Authors
Victor Dubowitz
Affiliations and Expertise
Emeritus Professor of Paediatrics
Dubowitz Neuromuscular Centre
Institute of Child Health
London, UK
Caroline Sewry
Affiliations and Expertise
Professor of Muscle Pathology
Dubowitz Neuromuscular Centre
Institute of Child Health/Great Ormond Street Hospital for Children
London, UK;
Wolfson Centre for Inherited Neuromuscular Diseases
Department of Musculoskeletal Pathology
Robert Jones and Agnes Hunt Orthopaedic Hospital
Oswestry, UK
Anders Oldfors
Affiliations and Expertise
Professor of Pathology
Sahlgrenska Academy
University of Gothenburg
Gothenburg, Sweden