Muscle disease : pathology and genetics PDF
Preview Muscle disease : pathology and genetics
Muscle Disease Advisory Editors Carsten Bönnemann , Washington, DC, USA Marianne de Visser , Amsterdam, The Netherlands Romain K. Gherardi , Paris, France Janice Holton , London, UK Nigel Laing , Perth, Australia Steven Moore , Iowa City, IA, USA Ichizo Nishino , Tokyo, Japan Anders Oldfors , Gothenburg, Sweden Hannes Vogel , Stanford, CA, USA Muscle Disease: Pathology and Genetics EDITED BY HANS H. GOEBEL M D Professor of Neuropathology Department of Neuropathology Charité – Universitätsmedizin Berlin Berlin, Germany; Department of Neuropathology Johannes Gutenberg University Mainz, Germany CAROLINE A. SEWRY P hD, 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 M D, PhD, FRCPath Emeritus Professor of Neuropathology Clinical Neurosciences University of Southampton School of Medicine Southampton General Hospital Southampton, UK SECOND EDITION This edition fi rst published 2013; © 2013 by International Society of Neuropathology Wiley-Blackwell is an imprint of John Wiley & Sons, formed by the merger of Wiley ’ s global Scientifi c, Technical and Medical business with Blackwell Publishing. 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ISBN 978-0-470-67205-1 (hardback : alk. paper) – ISBN 978-1-118-63546-9 – ISBN 978-1-118-63547-6 (Mobi) – ISBN 978-1-118-63548-3 (ePub) – ISBN 978-1-118-63549-0 I. Goebel, H.-H., editor of compilation. II. Sewry, Caroline A., editor of compilation. III. Weller, Roy O., editor of compilation. IV. International Society of Neuropathology, issuing body. V. Structural and molecular basis of skeletal muscle diseases. Preceded by (work): [DNLM: 1. Muscular Diseases–pathology. 2. Muscular Diseases–genetics. WE 550] RC927 616.7'4–dc23 2013010900 A catalogue record for this book is available from the British Library. Wiley also publishes its books in a variety of electronic formats. Some content that appears in print may not be available in electronic books. Cover design by Meaden Creative Set in 9.25/12pt Minion by Toppan Best-set Premedia Limited, Hong Kong 1 2013 Contents List of Contributors, vii Section 4: Sarcolemma: Muscular Dystrophies and Related Disorders Preface, xi List of Abbreviations, xiii 8 Dystrophin and Its Associated Glycoprotein Complex, 95 Rita Barresi and Susan C. Brown 9 Proteins of the Extracellular Matrix, 102 1 Introduction to Muscle Disease: Pathology Cecilia Jimenez-Mallebrera, A. Reghan Foley, and Genetics, 1 and Carsten G. Bönnemann Hans H. Goebel, Caroline A. Sewry and Roy O. Weller 10 Plasma Membrane Proteins: Dysferlin, Caveolin, PTRF/ Cavin, Integrin (cid:2)7, and Integrin (cid:2)9, 108 Section 1: Assessment of Muscle Disease Volker Straub, Liesbeth De Waele, and Rita Barresi 11 Sarcolemmal Ion Channelopathies, 118 2 Clinical Features of Muscle Disease, 6 Karin Jurkat-Rott and Frank Lehmann-Horn Marianne de Visser 3 General Pathology of Muscle Disease, 19 Section 5: Disorders of Nuclear Proteins and Caroline A. Sewry and Hans H. Goebel Nuclear Positioning 4 Genetics of Muscle Disease, 39 Kristen J. Nowak, Phillipa J. Lamont, and Nigel G. Laing 12 Proteins of the Nuclear Membrane and Matrix, 126 Antje Bornemann 13 Centronuclear Myopathies, 134 Section 2: Neurogenic Muscle Disease Norma Beatriz Romero and Jocelyn Laporte 5 Neurogenic Muscle Pathology, 68 Hannes Vogel Section 6: Early- and Late-Onset Disorders of Myofi brils Section 3: Diseases of Neuromuscular 14 Thin Filament Proteins: Nemaline and Related Congenital Transmission Myopathies, 145 Michael W. Lawlor and Alan H. Beggs 6 Autoimmune Myasthenias, 78 15 Nebulin: Nemaline Myopathies and Associated Disorders, Saiju Jacob and Angela Vincent 152 7 Congenital Myasthenic Syndromes, 86 Carina Wallgren-Pettersson, Hannu Kalimo, Amina Chaouch and Hanns Lochmüller and Martin Lammens v Contents 16 Myosins, 157 29 Disorders of Lipid Metabolism, 265 Anders Oldfors Wen-Chen Liang and Ichizo Nishino 17 Disorders Caused by Mutant Z-disk Proteins, 163 Montse Olivé, Isidro Ferrer, and Lev G. Goldfarb Section 12: Muscle Diseases with DNA Expansions 18 Titin-related Distal Myopathies, 171 Bjarne Udd 30 Myotonic Dystrophies Type 1 and 2, 273 19 Scapuloperoneal Disorders and Reducing Body Benedikt Schoser Myopathy Associated with the Four and Half LIM 31 Oculopharyngeal Muscular Dystrophy, 284 Domain Protein 1, 175 Bernard Brais Joachim Schessl Section 13: Facioscapulohumeral Dystrophy Section 7: Disorders Associated with Intermediate Filaments 32 Facioscapulohumeral Dystrophy, 288 Kevin M. Flanigan and Scott Q. Harper 20 Desminopathies, 178 Rolf Schröder and Christoph S. Clemen Section 14: Infl ammatory Myopathies 21 Plectinopathies, 185 Lilli Winter, Rolf Schröder, and Gerhard Wiche 33 Polymyositis, Dermatomyositis, and Inclusion Body Myositis, 298 Janice L. Holton, Lucy R. Wedderburn, and Michael G. Hanna Section 8: Mitochondria 34 Muscle Involvement in Connective Tissue Disorders: 22 Mitochondrial Myopathies, 193 Polyarteritis, Rheumatoid Arthritis, Systemic Lupus Anders Oldfors Erythematosus, Systemic Sclerosis, and Sjögren Syndrome, 313 Elisabeth J. Rushing Section 9: Sarcoplasmic Reticulum and T-tubules 35 Granulomatous and Other Immune-mediated Myopathies, 316 23 Core Myopathies, Malignant Hyperthermia Susceptibility, Werner Stenzel and Brody Disease, 214 36 Muscle Disorders Associated with Infections, 321 Heinz Jungbluth Leila Chimelli and Ana Lia Taratuto Section 10: Cytoplasmic Proteins Section 15: Toxic Myopathies 24 Enzymes: Cytosolic Proteins Calpain-3, SEPN1, 37 Reactions of Muscle to Toxins and Drugs, 328 and GNE, 225 Eleonora Aronica and Werner Stenzel Volker Straub, Liesbeth De Waele, and Rita Barresi 25 Proteins of Autophagy: LAMP-2, VMA21, VCP, Section 16: Aging and Systemic Disease and TRIM32, 234 May Christine V. Malicdan and Ichizo Nishino 38 Muscle Disease Associated with Age and Systemic Disorders, 339 26 Chaperone Proteins, 246 Hannes Vogel Kristl G. Claeys and Joachim Weis 27 Kelch Proteins, 252 Section 17: Rare Structural Abnormalities Kyle S. Yau, Montse Olivé, Phillipa J. Lamont, and Nigel G. Laing 39 Disorders of Muscle with Rare Structural Abnormalities, 351 Hans H. Goebel, Mehar C. Sharma, Ana Lia Taratuto, Section 11: Metabolic and Storage Disorders and Kristl G. Claeys 28 Disorders of Muscle Glycogen Metabolism, 254 John Vissing Index, 361 vi List of Contributors Eleonora Aronica Susan C. Brown Liesbeth De Waele Department of (Neuro) Pathology Department of Comparative Biomedical Sciences Department of Paediatric Neurology Academisch Medisch Centrum Royal Veterinary College University Hospitals Leuven Amsterdam, The Netherlands London, UK Leuven, Belgium Email: [email protected] Email: [email protected] Email: [email protected] Rita Barresi Amina Chaouch Isidro Ferrer NSCT Diagnostic & Advisory Service for Rare Institute of Genetic Medicine Institute of Neuropathology Neuromuscular Diseases Newcastle University Department of Pathology and Neuromuscular Unit M uscle Immunoanalysis Unit, Dental Hospital Newcastle upon Tyne, UK IDIBELL-Hospital Universitari de Bellvitge Newcastle upon Tyne, UK Email: [email protected] University of Barcelona Email: [email protected] Hospitalet de Llobregat Leila Chimelli Barcelona, Spain Alan H. Beggs Federal University of Rio de Janeiro Email: [email protected] Division of Genetics and Program in Genomics Division of Pathology The Manton Center for Orphan Disease Research National Cancer Institute Kevin M. Flanigan Boston Children ’ s Hospital Rio de Janeiro, Brazil Center for Gene Therapy Harvard Medical School Email: [email protected] Nationwide Children ’ s Hospital Boston, MA, USA Ohio State University Email: [email protected] Kristl G. Claeys Columbus, OH, USA Department of Neurology and Institute of Email: [email protected] Carsten G. Bönnemann Neuropathology Neuromuscular and Neurogenetic Disorders of University Hospital RWTH Aachen A. Reghan Foley Childhood Aachen, Germany Dubowitz Neuromuscular Centre National Institute of Neurological Disorders and Email: [email protected] Institute of Child Health and Great Ormond Street Stroke Hospital National Institutes of Health Christoph S. Clemen London, UK Bethesda, MD, USA Institute of Biochemistry I Email: [email protected] Email: [email protected] Medical Faculty University of Cologne Romain K. Gherardi Antje Bornemann Cologne, Germany Neuromuscular expert centre Department of Pathology and Neuropathology Email: [email protected] Henri Mondor Hospital, Créteil; Division of Neuropathology Paris-Est University & INSERM U955 E10 University of Tübingen Marianne de Visser F-94010 Créteil cedex, FRANCE Tübingen, Germany Department of Neurology Email: [email protected] Email: [email protected] Academic Medical Centre University of Amsterdam Hans H. Goebel Bernard Brais Amsterdam, The Netherlands Department of Neuropathology Departments of Neurology and Neurosurgery and Email: [email protected] Charité -Universitätsmedizin Berlin Human Genetics Berlin, Germany; Faculty of Medicine, McGill University Department of Neuropathology Montreal Neurological Institute Johannes Gutenberg University Montreal, Canada Mainz, Germany Email: [email protected] Email: [email protected] vii List of Contributors Lev G. Goldfarb Nigel G. Laing May Christine V. Malicdan National Institute of Neurological Disorders and Centre for Medical Research Department of Neuromuscular Research Stroke The University of Western Australia and National Institute of Neuroscience National Institutes of Health Western Australian Institute for Medical Research National Center of Neurology and Psychiatry Bethesda, MD, USA Nedlands, WA; Tokyo, Japan; Email: [email protected] Neurogenetic Unit Medical Genetics Branch, National Human Department of Anatomical Pathology Genome Research Institute Michael G. Hanna Royal Perth Hospital National Institutes of Health MRC Centre for Neuromuscular Diseases Perth, WA, Australia Bethesda MD, USA UCL Institute of Neurology Email: [email protected] Email: [email protected] London, UK Email: [email protected] Martin Lammens Steven A. Moore Department of Pathology Department of Pathology Scott Q. Harper University of Antwerp The University of Iowa Center for Gene Therapy University Hospital Antwerp Iowa City, IA, USA Nationwide Children ’ s Hospital Antwerp, Belgium Email: [email protected] The Ohio State University Email: [email protected] Columbus, OH, USA Ichizo Nishino Email: [email protected] Phillipa J. Lamont Department of Neuromuscular Research Neurogenetic Unit National Institute of Neuroscience Janice L. Holton Department of Anatomical Pathology National Center of Neurology and Psychiatry Department of Molecular Neuroscience Royal Perth Hospital Tokyo, Japan UCL Institute of Neurology Perth, WA, Australia Email: [email protected] London, UK Email: [email protected] Email: [email protected] Kristen J. Nowak Jocelyn Laporte Centre for Medical Research Saiju Jacob Department of Translational Medicine and The University of Western Australia and Queen Elizabeth Neuroscience Centre Neurogenetics Western Australian Institute for Medical Research University Hospitals of Birmingham Institut de Génétique et de Biologie Moléculaire et Nedlands, WA, Australia Birmingham, UK Cellulaire Email: [email protected] Email: [email protected] Université de Strasbourg Strasbourg, France Anders Oldfors Cecilia Jimenez-Mallebrera Email: [email protected] Department of Pathology Neuromuscular Unit Sahlgrenska University Hospital Department of Neuropaediatrics Michael W. Lawlor Gothenburg, Sweden Hospital Sant Joan de Déu Division of Pediatric Pathology, Department of Email: [email protected] Barcelona, Spain Pathology and Laboratory Medicine Email: [email protected] Medical College of Wisconsin Montse Olivé Milwaukee, WI, USA Institute of Neuropathology Heinz Jungbluth Email: [email protected] Department of Pathology and Neuromuscular Unit Department of Paediatric Neurology IDIBELL-Hospital Universitari de Bellvitge Neuromuscular Service Frank Lehmann-Horn University of Barcelona Evelina Children ’ s Hospital Division of Neurophysiology Hospitalet de Llobregat St Thomas’ Hospital; University of Ulm Barcelona, Spain Randall Division of Cell and Molecular Biophysics Ulm, Germany Email: [email protected] Muscle Signalling Section Email: [email protected] King ’ s College London, UK Norma Beatriz Romero Email: [email protected] Wen-Chen Liang Morphology Neuromuscular Unit of the Myology Department of Neuromuscular Research Institute Karin Jurkat-Rott National Institute of Neuroscience University UPMC – Paris Division of Neurophysiology National Center of Neurology and Psychiatry GHU Pitié-Salpêtrière University of Ulm Tokyo, Japan; Paris, France Ulm, Germany Department of Pediatrics Email: [email protected] Email: [email protected] Kaohsiung Medical University Hospital Kaohsiung, Taiwan Elisabeth J. Rushing Hannu Kalimo Email: [email protected] UniversitätsSpital Zürich Department of Pathology Institut für Neuropathologie Haartman Institute, University of Helsinki Hanns Lochmüller Zürich, Switzerland Helsinki, Finland Institute of Genetic Medicine Email: [email protected] Email: hannu.kalimo@helsinki.fi Newcastle University Newcastle upon Tyne, UK Email: [email protected] viii List of Contributors Joachim Schessl Ana Lia Taratuto Lucy R. Wedderburn Friedrich-Baur Institute Department of Neuropathology Rheumatology Unit Department of Neurology Institute for Neurological Research, FLENI UCL Institute of Child Health Ludwig-Maximilians University of Munich Buenos Aires, Argentina London, UK Munich, Germany Email: ataratuto@fl eni.org.ar Email: [email protected] Email: [email protected] Bjarne Udd Joachim Weis Benedikt Schoser Neuromuscular Research Center Institute of Neuropathology Friedrich-Baur Institute Department of Neurology University Hospital RWTH Aachen Department of Neurology Tampere University and University Hospital Aachen, Germany Ludwig-Maximilians University Munich Tampere; Email: [email protected] Munich, Germany Folkhälsan Institute of Genetics Email: [email protected] Department of Medical Genetics Roy O. Weller University of Helsinki Clinical Neurosciences Rolf Schröder Helsinki, Finland University of Southampton School of Medicine Institute of Neuropathology Email: Bjarne.Udd@pshp.fi Southampton General Hospital University Hospital Erlangen Southampton, UK Erlangen, Germany Angela Vincent Email: [email protected] Email: [email protected] Nuffi eld Department of Clinical Neurosciences John Radcliffe Hospital Gerhard Wiche Caroline A. Sewry Oxford, UK Department of Biochemistry and Cell Biology Dubowitz Neuromuscular Centre Email: [email protected] Max F. Perutz Laboratories Institute of Child Health and Great Ormond Street University of Vienna Hospital John Vissing Vienna, Austria London, UK; Neuromuscular Research Unit Email: [email protected] Wolfson Centre for Inherited Neuromuscular Department of Neurology Diseases Rigshospitalet, University of Copenhagen Lilli Winter RJAH Orthopaedic Hospital Copenhagen, Denmark Department of Biochemistry and Cell Biology Oswestry, UK Email: [email protected] Max F. Perutz Laboratories Email: [email protected] University of Vienna Hannes Vogel Vienna, Austria Mehar C. Sharma Department of Pathology Email: [email protected] Department of Pathology Stanford University School of Medicine All India Institute of Medical Sciences Palo Alto, CA, USA Kyle S. Yau New Delhi, India Email: [email protected] Centre for Medical Research Email: [email protected] The University of Western Australia and Carina Wallgren-Pettersson Western Australian Institute for Medical Research Werner Stenzel Department of Medical Genetics Nedlands, WA, Australia Department of Neuropathology Haartman Institute Email: [email protected] Charité-Universitätsmedizin Berlin University of Helsinki and Berlin, Germany The Folkhälsan Institute of Genetics Email: [email protected] Helsinki, Finland Email: carina.wallgren@helsinki.fi Volker Straub Institute of Genetic Medicine Newcastle University Newcastle upon Tyne, UK Email: [email protected] ix
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