Nigel G. Laing
University of Western Australia
Nedlands, Western Australia, Australia

About this Book

Although best known for its role in heart disease, the sarcomere--the fundamental unit of muscle contraction--is also involved in skeletal muscle diseases. Chapters in The Sarcomere and Skeletal Muscle Disease provide an up-to-date review of diseases caused by mutated proteins in the different sub-compartments of the sarcomere, document the techniques currently being used to investigate the pathobiological bases of the diseases, which remain largely unknown, and discuss possible therapeutic options.

Table of Contents

Foreword. Sarcomeric Disease: Advances and Some Unanswered Questions
Alan E.H. Emery

PART I. THE SARCOMERE

1. The Sarcomere and Sarcomerogenesis
Elisabeth Ehler and Mathias Gautel

PART II. THIN FILAMENT DISEASES

2. Skeletal Muscle Alpha-Actin Diseases
Kathryn N. North and Nigel G. Laing

3. Nebulin—A Giant Chameleon
Katarina Pelin and Carina Wallgren‑Pettersson

4. Skeletal Muscle Disease Due to Mutations in Tropomyosin, Troponin and Cofilin
Nigel F. Clarke

5. Investigations into the Pathobiology of Thin-Filament Myopathies
Biljana Ilkovski

6. Mouse Models for Thin Filament Disease
Mai-Anh T. Nguyen and Edna C. Hardeman

PART III. THICK FILAMENT DISEASES

7. Thick Filament Diseases
Anders Oldfors and Phillipa J. Lamont

8. Acute Quadriplegic Myopathy: An Acquired “Myosinopathy”
Lars Larsson

PART IV. THIRD FILAMENT DISEASES

9. Third Filament Diseases
Bjarne Udd

PART V. Z-DISK DISEASES

10. The Z-Disk Diseases
Duygu Selcen and Olli Carpén

PART VI. INTERMEDIATE FILAMENT DISEASES

11. Intermediate Filament Diseases: Desminopathy
Lev G. Goldfarb, Montse Olivé, Patrick Vicart and Hans H. Goebel

12. Muscular Integrity—A Matter of Interlinking Distinct Structures via Plectin
Patryk Konieczny and Gerhard Wiche

PART VII. TROPHIC EFFECTS

13. The Sarcomere and the Nucleus: Functional Links to Hypertrophy, Atrophy and Sarcopenia
Mathias Gautel

PART VIII. OTHER ANIMAL MODELS

14. Other Model Organisms for Sarcomeric Muscle Diseases
John Sparrow, Simon M. Hughes and Laurent Segalat

PART IX. POSSIBLE THERAPIES

15. Therapeutic Approaches for the Sarcomeric Protein Diseases
Kristen J. Nowak