Muscle Disease Pathology and Genetics

Edited by

Hans H. Goebel, MD, Professor of Neuropathology, Charité – Universitätsmedizin Berlin, Berlin, Germany; Department of Neuropathology, Johannes Gutenberg University, Mainz, Germany,

Caroline A. Sewry, PhD, FRCPath, Professor of Muscle Pathology, Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London, UK; Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, UK

Roy O. Weller, MD, PhD, FRCPath, Emeritus Professor of Neuropathology, Clinical Neurosciences, University of Southampton School of Medicine, Southampton General Hospital, Southampton, UK

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

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