{"product_id":"muscle-disease-isbn-9780470672051","title":"Muscle Disease","description":"\u003cp\u003eWritten by more than 60 international experts in the field, \u003ci\u003eMuscle Disease\u003c\/i\u003e embodies the explosion of new concepts and information on the pathology and genetics of muscle disease that has occurred in recent years.\u003c\/p\u003e \u003cp\u003eIn 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.\u003c\/p\u003e \u003cp\u003eThis new edition of \u003ci\u003eMuscle Disease: Pathology and Genetics\u003c\/i\u003e 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.\u003c\/p\u003e  \u003cp\u003eList of Contributors, vii\u003c\/p\u003e \u003cp\u003ePreface, xi\u003c\/p\u003e \u003cp\u003eList of Abbreviations, xiii\u003c\/p\u003e \u003cp\u003e1 Introduction to Muscle Disease: Pathology and Genetics, 1\u003cbr\u003e \u003ci\u003eHans H. Goebel, Caroline A. Sewry and Roy O. Weller\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection 1: Assessment of Muscle Disease\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e2 Clinical Features of Muscle Disease, 6\u003cbr\u003e \u003ci\u003eMarianne de Visser\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e3 General Pathology of Muscle Disease, 19\u003cbr\u003e \u003ci\u003eCaroline A. Sewry and Hans H. Goebel\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e4 Genetics of Muscle Disease, 39\u003cbr\u003e \u003ci\u003eKristen J. Nowak, Phillipa J. Lamont, and Nigel G. Laing\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection 2: Neurogenic Muscle Disease\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e5 Neurogenic Muscle Pathology, 68\u003cbr\u003e \u003ci\u003eHannes Vogel\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection 3: Diseases of Neuromuscular Transmission\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e6 Autoimmune Myasthenias, 78\u003cbr\u003e \u003ci\u003eSaiju Jacob and Angela Vincent\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e7 Congenital Myasthenic Syndromes, 86\u003cbr\u003e \u003ci\u003eAmina Chaouch and Hanns Lochmüller\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection 4: Sarcolemma: Muscular Dystrophies and Related Disorders\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e8 Dystrophin and Its Associated Glycoprotein Complex, 95\u003cbr\u003e \u003ci\u003eRita Barresi and Susan C. Brown\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e9 Proteins of the Extracellular Matrix, 102\u003cbr\u003e \u003ci\u003eCecilia Jimenez-Mallebrera, A. Reghan Foley, and Carsten G. Bönnemann\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e10 Plasma Membrane Proteins: Dysferlin, Caveolin, PTRF\/Cavin, Integrin 7, and Integrin 9, 108\u003cbr\u003e \u003ci\u003eVolker Straub, Liesbeth De Waele, and Rita Barresi\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e11 Sarcolemmal Ion Channelopathies, 118\u003cbr\u003e \u003ci\u003eKarin Jurkat-Rott and Frank Lehmann-Horn\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection 5: Disorders of Nuclear Proteins and Nuclear Positioning\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e12 Proteins of the Nuclear Membrane and Matrix, 126\u003cbr\u003e \u003ci\u003eAntje Bornemann\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e13 Centronuclear Myopathies, 134\u003cbr\u003e \u003ci\u003eNorma Beatriz Romero and Jocelyn Laporte\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection 6: Early- and Late-Onset Disorders of Myofibrils\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e14 Thin Filament Proteins: Nemaline and Related Congenital Myopathies, 145\u003cbr\u003e \u003ci\u003eMichael W. Lawlor and Alan H. Beggs\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e15 Nebulin: Nemaline Myopathies and Associated Disorders, 152\u003cbr\u003e \u003ci\u003eCarina Wallgren-Pettersson, Hannu Kalimo, and Martin Lammens\u003c\/i\u003e\u003cbr\u003e \u003cbr\u003e 16 Myosins, 157\u003cbr\u003e \u003ci\u003eAnders Oldfors\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e17 Disorders Caused by Mutant Z-disk Proteins, 163\u003cbr\u003e \u003ci\u003eMontse Olivé, Isidro Ferrer, and Lev G. Goldfarb\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e18 Titin-related Distal Myopathies, 171\u003cbr\u003e \u003ci\u003eBjarne Udd\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e19 Scapuloperoneal Disorders and Reducing Body Myopathy Associated with the Four and Half LIM Domain Protein 1, 175\u003cbr\u003e \u003ci\u003eJoachim Schessl\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection 7: Disorders Associated with Intermediate Filaments\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e20 Desminopathies, 178\u003cbr\u003e \u003ci\u003eRolf Schröder and Christoph S. Clemen\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e21 Plectinopathies, 185\u003cbr\u003e \u003ci\u003eLilli Winter, Rolf Schröder, and Gerhard Wiche\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection 8: Mitochondria\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e22 Mitochondrial Myopathies, 193\u003cbr\u003e \u003ci\u003eAnders Oldfors\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection 9: Sarcoplasmic Reticulum and T-tubules\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e23 Core Myopathies, Malignant Hyperthermia Susceptibility, and Brody Disease, 214\u003cbr\u003e \u003ci\u003eHeinz Jungbluth\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection 10: Cytoplasmic Proteins\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e24 Enzymes: Cytosolic Proteins Calpain-3, SEPN1, and GNE, 225\u003cbr\u003e \u003ci\u003eVolker Straub, Liesbeth De Waele, and Rita Barresi\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e25 Proteins of Autophagy: LAMP-2, VMA21, VCP, and TRIM32, 234\u003cbr\u003e \u003ci\u003eMay Christine V. Malicdan and Ichizo Nishino\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e26 Chaperone Proteins, 246\u003cbr\u003e \u003ci\u003eKristl G. Claeys and Joachim Weis\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e27 Kelch Proteins, 252\u003cbr\u003e \u003ci\u003eKyle S. Yau, Montse Olivé, Phillipa J. Lamont, and Nigel G. Laing\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection 11: Metabolic and Storage Disorders\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e28 Disorders of Muscle Glycogen Metabolism, 254\u003cbr\u003e \u003ci\u003eJohn Vissing\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e29 Disorders of Lipid Metabolism, 265\u003cbr\u003e \u003ci\u003eWen-Chen Liang and Ichizo Nishino\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection 12: Muscle Diseases with DNA Expansions\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e30 Myotonic Dystrophies Type 1 and 2, 273\u003cbr\u003e \u003ci\u003eBenedikt Schoser\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e31 Oculopharyngeal Muscular Dystrophy, 284\u003cbr\u003e \u003ci\u003eBernard Brais\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection 13: Facioscapulohumeral Dystrophy\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e32 Facioscapulohumeral Dystrophy, 288\u003cbr\u003e \u003ci\u003eKevin M. Flanigan and Scott Q. Harper\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection 14: Inflammatory Myopathies\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e33 Polymyositis, Dermatomyositis, and Inclusion Body Myositis, 298\u003cbr\u003e \u003ci\u003eJanice L. Holton, Lucy R. Wedderburn, and Michael G. Hanna\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e34 Muscle Involvement in Connective Tissue Disorders: Polyarteritis, Rheumatoid Arthritis, Systemic Lupus Erythematosus, Systemic Sclerosis, and Sjögren Syndrome, 313\u003cbr\u003e \u003ci\u003eElisabeth J. Rushing\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e35 Granulomatous and Other Immune-mediated Myopathies, 316\u003cbr\u003e \u003ci\u003eWerner Stenzel\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e36 Muscle Disorders Associated with Infections, 321\u003cbr\u003e \u003ci\u003eLeila Chimelli and Ana Lia Taratuto\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection 15: Toxic Myopathies\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e37 Reactions of Muscle to Toxins and Drugs, 328\u003cbr\u003e \u003ci\u003eEleonora Aronica and Werner Stenzel\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection 16: Aging and Systemic Disease\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e38 Muscle Disease Associated with Age and Systemic Disorders, 339\u003cbr\u003e \u003ci\u003eHannes Vogel\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eSection 17: Rare Structural Abnormalities\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e39 Disorders of Muscle with Rare Structural Abnormalities, 351\u003cbr\u003e \u003ci\u003eHans H. Goebel, Mehar C. Sharma, Ana Lia Taratuto, and Kristl G. Claeys\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003e\u003ci\u003eIndex, 361\u003c\/i\u003e\u003c\/p\u003e  \u003cp\u003e“This comprehensive hardback book is divided into 17 sections and has 62 highly regarded contributors from around the world.”  (\u003ci\u003eNeuropathology \u0026amp; Applied Neurobiology\u003c\/i\u003e, 1 July 2014)\u003c\/p\u003e  \u003cp\u003e\u003cb\u003eEdited by\u003c\/b\u003e\u003c\/p\u003e \u003cp\u003e\u003cb\u003eHans H. Goebel\u003c\/b\u003e, MD, Professor of Neuropathology, Charité – Universitätsmedizin Berlin, Berlin, Germany; Department of Neuropathology, Johannes Gutenberg University, Mainz, Germany,\u003c\/p\u003e \u003cp\u003e\u003cb\u003eCaroline A. Sewry\u003c\/b\u003e, 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\u003c\/p\u003e \u003cp\u003e\u003cb\u003eRoy O. Weller\u003c\/b\u003e, MD, PhD, FRCPath, Emeritus Professor of Neuropathology, Clinical Neurosciences, University of Southampton School of Medicine, Southampton General Hospital, Southampton, UK\u003c\/p\u003e  \u003cp\u003eWritten by more than 60 international experts in the field, \u003ci\u003eMuscle Disease\u003c\/i\u003e embodies the explosion of new concepts and information on the pathology and genetics of muscle disease that has occurred in recent years.\u003c\/p\u003e \u003cp\u003eIn 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.\u003c\/p\u003e \u003cp\u003eThis new edition of \u003ci\u003eMuscle Disease: Pathology and Genetics\u003c\/i\u003e 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.\u003c\/p\u003e","brand":"Wiley-Blackwell","offers":[{"title":"Default Title","offer_id":47989665235173,"sku":"NP9780470672051","price":332.95,"currency_code":"USD","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/1842\/7735\/files\/9780470672051.jpg?v=1761785017","url":"https:\/\/k12savings.com\/products\/muscle-disease-isbn-9780470672051","provider":"K12savings","version":"1.0","type":"link"}