Muscle Disease: Pathology and Genetics, Second edition

Muscle Disease: Pathology and Genetics, Second edition

Editor(s): Hans H Goebel, Caroline Sewry, Roy Weller

Published Online: 8 JUL 2013

Print ISBN: 9780470672051

Online ISBN: 9781118635469

DOI: 10.1002/9781118635469

About this Book

Written by more than 60 international experts in the field, Muscle Disease embodies the explosion of new concepts and information on the pathology and genetics of muscle disease that has occurred in recent years.

In order to accommodate the new complex principles involved, the book is organized around the motor unit and the inherited disorders, in particular, are centered on the ultrastructure and organelles within the muscle fiber.  In this way, the wide spectrum of muscle diseases, ranging from neurogenic and inflammatory disorders to those involving defects in a single gene, can be expressed in a logical sequence.  For example, disorders that principally involve specific organelles or particular metabolic processes are grouped together, with sections on disorders of the sarcolemma, mitochondria, myofibrils, glycogen and lipid metabolism, etc.  Firm reference to clinical aspects and classification of muscle diseases has been maintained throughout the book with an initial clinical overview and with specific clinical sections in each chapter.  For ease of navigation through the complex variety of muscle diseases, each chapter has been organized in a standard pattern that allows the reader to easily locate information on individual disease entities in different chapters.

This new edition of Muscle Disease: Pathology and Genetics will be a very valuable resource for clinicians, pathologists, geneticists and basic neuroscientists involved in diagnosis, research, treatment and management of patients with muscle disease.

Table of contents

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  1. Part 1: Assessment of Muscle Disease

    1. Chapter 4

      Genetics of Muscle Disease (pages 39–67)

      Kristen J. Nowak, Phillipa J. Lamont and Nigel G. Laing

  2. Part 2: Neurogenic Muscle Disease

  3. Part 3: Diseases of Neuromuscular Transmission

  4. Part 4: Sarcolemma: Muscular Dystrophies and Related Disorders

    1. Chapter 9

      Proteins of the Extracellular Matrix (pages 102–107)

      Cecilia Jimenez-Mallebrera, A. Reghan Foley and Carsten G. Bönnemann

  5. Part 5: Disorders of Nuclear Proteins and Nuclear Positioning

  6. Part 6: Early- and Late-Onset Disorders of Myofibrils

  7. Part 7: Disorders Associated with Intermediate Filaments

    1. Chapter 21

      Plectinopathies (pages 185–192)

      Lilli Winter, Rolf Schröder and Gerhard Wiche

  8. Part 8: Mitochondria

  9. Part 9: Sarcoplasmic Reticulum and T-tubules

  10. Part 10: Cytoplasmic Proteins

    1. Chapter 27

      Kelch Proteins (pages 252–253)

      Kyle S. Yau, Montse Olivé, Phillipa J. Lamont and Nigel G. Laing

  11. Part 11: Metabolic and Storage Disorders

  12. Part 12: Muscle Diseases with DNA Expansions

  13. Part 13: Facioscapulohumeral Dystrophy

  14. Part 14: Inflammatory Myopathies

  15. Part 15: Toxic Myopathies

  16. Part 16: Aging and Systemic Disease

  17. Part 17: Rare Structural Abnormalities

    1. Chapter 39

      Disorders of Muscle with Rare Structural Abnormalities (pages 351–360)

      Hans H. Goebel, Mehar C. Sharma, Ana Lia Taratuto and Kristl G. Claeys

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