Muscle disease : pathology and genetics

390 Pages·2013·27.959 MB·English

by  H -H Goebel, Caroline A Sewry, Roy O Weller, International Society of Neuropathology

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
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Library of Congress Cataloging-in-Publication Data
Muscle disease : pathology and genetics / edited by Hans H. Goebel, Caroline A. Sewry, Roy O. Weller. –
Second edition.
p. ; cm.
Preceded by (work): Structural and molecular basis of skeletal muscle diseases / volume editor,
George Karpati. Basel : ISN Neuropath Press, c2002.
Includes bibliographical references and index.
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