Muscle Disease

Edited byHans 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, UKRoy 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, viiPreface, xiList of Abbreviations, xiii1 Introduction to Muscle Disease: Pathology and Genetics, 1Hans H. Goebel, Caroline A. Sewry and Roy O. WellerSection 1: Assessment of Muscle Disease2 Clinical Features of Muscle Disease, 6Marianne de Visser3 General Pathology of Muscle Disease, 19Caroline A. Sewry and Hans H. Goebel4 Genetics of Muscle Disease, 39Kristen J. Nowak, Phillipa J. Lamont, and Nigel G. LaingSection 2: Neurogenic Muscle Disease5 Neurogenic Muscle Pathology, 68Hannes VogelSection 3: Diseases of Neuromuscular Transmission6 Autoimmune Myasthenias, 78Saiju Jacob and Angela Vincent7 Congenital Myasthenic Syndromes, 86Amina Chaouch and Hanns LochmüllerSection 4: Sarcolemma: Muscular Dystrophies and Related Disorders8 Dystrophin and Its Associated Glycoprotein Complex, 95Rita Barresi and Susan C. Brown9 Proteins of the Extracellular Matrix, 102Cecilia Jimenez-Mallebrera, A. Reghan Foley, and Carsten G. Bönnemann10 Plasma Membrane Proteins: Dysferlin, Caveolin, PTRF/Cavin, Integrin 7, and Integrin 9, 108Volker Straub, Liesbeth De Waele, and Rita Barresi11 Sarcolemmal Ion Channelopathies, 118Karin Jurkat-Rott and Frank Lehmann-HornSection 5: Disorders of Nuclear Proteins and Nuclear Positioning12 Proteins of the Nuclear Membrane and Matrix, 126Antje Bornemann13 Centronuclear Myopathies, 134Norma Beatriz Romero and Jocelyn LaporteSection 6: Early- and Late-Onset Disorders of Myofibrils14 Thin Filament Proteins: Nemaline and Related Congenital Myopathies, 145Michael W. Lawlor and Alan H. Beggs15 Nebulin: Nemaline Myopathies and Associated Disorders, 152Carina Wallgren-Pettersson, Hannu Kalimo, and Martin Lammens 16 Myosins, 157Anders Oldfors17 Disorders Caused by Mutant Z-disk Proteins, 163Montse Olivé, Isidro Ferrer, and Lev G. Goldfarb18 Titin-related Distal Myopathies, 171Bjarne Udd19 Scapuloperoneal Disorders and Reducing Body Myopathy Associated with the Four and Half LIM Domain Protein 1, 175Joachim SchesslSection 7: Disorders Associated with Intermediate Filaments20 Desminopathies, 178Rolf Schröder and Christoph S. Clemen21 Plectinopathies, 185Lilli Winter, Rolf Schröder, and Gerhard WicheSection 8: Mitochondria22 Mitochondrial Myopathies, 193Anders OldforsSection 9: Sarcoplasmic Reticulum and T-tubules23 Core Myopathies, Malignant Hyperthermia Susceptibility, and Brody Disease, 214Heinz JungbluthSection 10: Cytoplasmic Proteins24 Enzymes: Cytosolic Proteins Calpain-3, SEPN1, and GNE, 225Volker Straub, Liesbeth De Waele, and Rita Barresi25 Proteins of Autophagy: LAMP-2, VMA21, VCP, and TRIM32, 234May Christine V. Malicdan and Ichizo Nishino26 Chaperone Proteins, 246Kristl G. Claeys and Joachim Weis27 Kelch Proteins, 252Kyle S. Yau, Montse Olivé, Phillipa J. Lamont, and Nigel G. LaingSection 11: Metabolic and Storage Disorders28 Disorders of Muscle Glycogen Metabolism, 254John Vissing29 Disorders of Lipid Metabolism, 265Wen-Chen Liang and Ichizo NishinoSection 12: Muscle Diseases with DNA Expansions30 Myotonic Dystrophies Type 1 and 2, 273Benedikt Schoser31 Oculopharyngeal Muscular Dystrophy, 284Bernard BraisSection 13: Facioscapulohumeral Dystrophy32 Facioscapulohumeral Dystrophy, 288Kevin M. Flanigan and Scott Q. HarperSection 14: Inflammatory Myopathies33 Polymyositis, Dermatomyositis, and Inclusion Body Myositis, 298Janice L. Holton, Lucy R. Wedderburn, and Michael G. Hanna34 Muscle Involvement in Connective Tissue Disorders: Polyarteritis, Rheumatoid Arthritis, Systemic Lupus Erythematosus, Systemic Sclerosis, and Sjögren Syndrome, 313Elisabeth J. Rushing35 Granulomatous and Other Immune-mediated Myopathies, 316Werner Stenzel36 Muscle Disorders Associated with Infections, 321Leila Chimelli and Ana Lia TaratutoSection 15: Toxic Myopathies37 Reactions of Muscle to Toxins and Drugs, 328Eleonora Aronica and Werner StenzelSection 16: Aging and Systemic Disease38 Muscle Disease Associated with Age and Systemic Disorders, 339Hannes VogelSection 17: Rare Structural Abnormalities39 Disorders of Muscle with Rare Structural Abnormalities, 351Hans H. Goebel, Mehar C. Sharma, Ana Lia Taratuto, and Kristl G. ClaeysIndex, 361

“This comprehensive hardback book is divided into 17 sections and has 62 highly regarded contributors from around the world.”  (Neuropathology & Applied Neurobiology, 1 July 2014)