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
List of Contributors, vii
Preface, xi
List of Abbreviations, xiii
1 Introduction to Muscle Disease: Pathology and Genetics, 1
Hans H. Goebel, Caroline A. Sewry and Roy O. Weller
Section 1: Assessment of Muscle Disease
2 Clinical Features of Muscle Disease, 6
Marianne de Visser
3 General Pathology of Muscle Disease, 19
Caroline A. Sewry and Hans H. Goebel
4 Genetics of Muscle Disease, 39
Kristen J. Nowak, Phillipa J. Lamont, and Nigel G. Laing
Section 2: Neurogenic Muscle Disease
5 Neurogenic Muscle Pathology, 68
Hannes Vogel
Section 3: Diseases of Neuromuscular Transmission
6 Autoimmune Myasthenias, 78
Saiju Jacob and Angela Vincent
7 Congenital Myasthenic Syndromes, 86
Amina Chaouch and Hanns Lochmüller
Section 4: Sarcolemma: Muscular Dystrophies and Related Disorders
8 Dystrophin and Its Associated Glycoprotein Complex, 95
Rita Barresi and Susan C. Brown
9 Proteins of the Extracellular Matrix, 102
Cecilia Jimenez-Mallebrera, A. Reghan Foley, and Carsten G. Bönnemann
10 Plasma Membrane Proteins: Dysferlin, Caveolin, PTRF/Cavin, Integrin 7, and Integrin 9, 108
Volker Straub, Liesbeth De Waele, and Rita Barresi
11 Sarcolemmal Ion Channelopathies, 118
Karin Jurkat-Rott and Frank Lehmann-Horn
Section 5: Disorders of Nuclear Proteins and Nuclear Positioning
12 Proteins of the Nuclear Membrane and Matrix, 126
Antje Bornemann
13 Centronuclear Myopathies, 134
Norma Beatriz Romero and Jocelyn Laporte
Section 6: Early- and Late-Onset Disorders of Myofibrils
14 Thin Filament Proteins: Nemaline and Related Congenital Myopathies, 145
Michael W. Lawlor and Alan H. Beggs
15 Nebulin: Nemaline Myopathies and Associated Disorders, 152
Carina Wallgren-Pettersson, Hannu Kalimo, and Martin Lammens
16 Myosins, 157
Anders Oldfors
17 Disorders Caused by Mutant Z-disk Proteins, 163
Montse Olivé, Isidro Ferrer, and Lev G. Goldfarb
18 Titin-related Distal Myopathies, 171
Bjarne Udd
19 Scapuloperoneal Disorders and Reducing Body Myopathy Associated with the Four and Half LIM Domain Protein 1, 175
Joachim Schessl
Section 7: Disorders Associated with Intermediate Filaments
20 Desminopathies, 178
Rolf Schröder and Christoph S. Clemen
21 Plectinopathies, 185
Lilli Winter, Rolf Schröder, and Gerhard Wiche
Section 8: Mitochondria
22 Mitochondrial Myopathies, 193
Anders Oldfors
Section 9: Sarcoplasmic Reticulum and T-tubules
23 Core Myopathies, Malignant Hyperthermia Susceptibility, and Brody Disease, 214
Heinz Jungbluth
Section 10: Cytoplasmic Proteins
24 Enzymes: Cytosolic Proteins Calpain-3, SEPN1, and GNE, 225
Volker Straub, Liesbeth De Waele, and Rita Barresi
25 Proteins of Autophagy: LAMP-2, VMA21, VCP, and TRIM32, 234
May Christine V. Malicdan and Ichizo Nishino
26 Chaperone Proteins, 246
Kristl G. Claeys and Joachim Weis
27 Kelch Proteins, 252
Kyle S. Yau, Montse Olivé, Phillipa J. Lamont, and Nigel G. Laing
Section 11: Metabolic and Storage Disorders
28 Disorders of Muscle Glycogen Metabolism, 254
John Vissing
29 Disorders of Lipid Metabolism, 265
Wen-Chen Liang and Ichizo Nishino
Section 12: Muscle Diseases with DNA Expansions
30 Myotonic Dystrophies Type 1 and 2, 273
Benedikt Schoser
31 Oculopharyngeal Muscular Dystrophy, 284
Bernard Brais
Section 13: Facioscapulohumeral Dystrophy
32 Facioscapulohumeral Dystrophy, 288
Kevin M. Flanigan and Scott Q. Harper
Section 14: Inflammatory Myopathies
33 Polymyositis, Dermatomyositis, and Inclusion Body Myositis, 298
Janice L. Holton, Lucy R. Wedderburn, and Michael G. Hanna
34 Muscle Involvement in Connective Tissue Disorders: Polyarteritis, Rheumatoid Arthritis, Systemic Lupus Erythematosus, Systemic Sclerosis, and Sjögren Syndrome, 313
Elisabeth J. Rushing
35 Granulomatous and Other Immune-mediated Myopathies, 316
Werner Stenzel
36 Muscle Disorders Associated with Infections, 321
Leila Chimelli and Ana Lia Taratuto
Section 15: Toxic Myopathies
37 Reactions of Muscle to Toxins and Drugs, 328
Eleonora Aronica and Werner Stenzel
Section 16: Aging and Systemic Disease
38 Muscle Disease Associated with Age and Systemic Disorders, 339
Hannes Vogel
Section 17: Rare Structural Abnormalities
39 Disorders of Muscle with Rare Structural Abnormalities, 351
Hans H. Goebel, Mehar C. Sharma, Ana Lia Taratuto, and Kristl G. Claeys
Index, 361
