LEADER 05037nam 2200685Ia 450 001 9910139054603321 005 20200520144314.0 010 $a1-118-63548-5 010 $a1-118-63546-9 010 $a1-118-63549-3 035 $a(CKB)2560000000102101 035 $a(EBL)1209637 035 $a(OCoLC)850080840 035 $a(SSID)ssj0000886414 035 $a(PQKBManifestationID)11550379 035 $a(PQKBTitleCode)TC0000886414 035 $a(PQKBWorkID)10817529 035 $a(PQKB)11394235 035 $a(MiAaPQ)EBC1209637 035 $a(Au-PeEL)EBL1209637 035 $a(CaPaEBR)ebr10716699 035 $a(CaONFJC)MIL496231 035 $a(PPN)204599032 035 $a(EXLCZ)992560000000102101 100 $a20130318d2013 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 00$aMuscle disease$b[electronic resource] $epathology and genetics /$fedited by Hans H. Goebel, Caroline A. Sewry, Roy O. Weller 205 $a2nd ed. 210 $aChichester, West Sussex ;$aHoboken, NJ $cWiley-Blackwell$d2013 215 $a1 online resource (986 p.) 300 $aDescription based upon print version of record. 311 $a0-470-67205-6 320 $aIncludes bibliographical references and index. 327 $aCover; Advisory Editors; Title page; Copyright page; List of Contributors; Preface; List of Abbreviations; 1: Introduction to Muscle Disease: Pathology and Genetics; Introduction; Structure of the book; Conclusion; Section 1: Assessment of Muscle Disease; 2: Clinical Features of Muscle Disease; Introduction; Clinical history and examination; Conclusion; 3: General Pathology of Muscle Disease; Introduction; Selection of muscle to biopsy; Biopsy technique; Tissue preparation; Use of other tissues for diagnosis; Development of human muscle 327 $aHistological and histochemical features of normal muscleHistological and histochemical defects in pathological muscle; Structural abnormalities; Absence of an enzyme; Storage of a product; Immunohistochemistry; Electron microscopy; Future perspectives; 4: Genetics of Muscle Disease; Introduction; Discovery of genes causing muscle disease; Benefits of finding the mutation causing a disease in a patient; Types of DNA mutations; Blurring of traditional clinical classifications - parallel nosologies 327 $aMutations within the same gene can cause a spectrum of phenotypes (as classified by classic nosology)One disease-related pathology can be caused by mutations in different genes; Some genes are to date only implicated in one disease; Some muscle proteins have not yet been associated with human disease; Interesting recent developments; The way forward, addressing the grand challenges in the genetics of muscle disease; Conclusions and future perspectives; Section 2: Neurogenic Muscle Disease; 5: Neurogenic Muscle Pathology; Defining denervation; Clinical features; Pathophysiology 327 $aPathological changesFetal and infantile denervation; Differential diagnosis; Section 3: Diseases of Neuromuscular Transmission; 6: Autoimmune Myasthenias; Introduction; Incidence; Clinical features; Investigations; Treatment and prognosis; Pathology; Genetics; Differential diagnosis; Animal models; Lambert-Eaton myasthenic syndrome; 7: Congenital Myasthenic Syndromes; Introduction; The neuromuscular junction; Clinical features of congenital myasthenic syndromes; Conclusions and future perspectives; Section 4: Sarcolemma: Muscular Dystrophies and Related Disorders 327 $a8: Dystrophin and Its Associated Glycoprotein ComplexIntroduction; Incidence; Clinical features; Pathology; Genetics; Animal models; Conclusions and future perspectives; 9: Proteins of the Extracellular Matrix; Introduction; Congenital muscular dystrophies; Laminin ?2 primary deficiency; Collagen VI-related myopathies; Perlecan-related disorders; Laminin ?2 and agrin-related disorders; Animal models for extracellular matrix-related disorders; Conclusions and future perspectives; 10: Plasma Membrane Proteins: Dysferlin, Caveolin, PTRF/Cavin, Integrin ?7, and Integrin ?9; Introduction 327 $aDysferlin 330 $aThis book clarifies the pathology and genetics of muscle disease for pathologists, clinicians, geneticists and researchers to aid in the diagnosis and management of patients. Organized around the 'motor unit' concept, this book presents the latest understanding of muscle disease, and how this can help identify new treatments. 606 $aMuscles$xDiseases 606 $aGenetics 615 0$aMuscles$xDiseases. 615 0$aGenetics. 676 $a616.7/4 701 $aGoebel$b H. -H$0961687 701 $aSewry$b Caroline A$0769008 701 $aWeller$b Roy O$0961688 712 02$aInternational Society of Neuropathology. 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910139054603321 996 $aMuscle disease$92180258 997 $aUNINA