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Title FSHD facioscapulohumeral muscular dystrophy : clinical medicine and molecular cell biology / edited by Meena Upadhyaya and David N Cooper
Published London ; New York : BIOS Scientific Publishers, 2004


Description 1 online resource (xix, 392 pages) : illustrations
Contents Introduction and overview of FSHD / M. Upadhyaya, D.N. Cooper -- Facioscapulohumeral muscular dystrophy: historical background and literature review / M. Rogers -- Facioscapulohumeral muscular dystrophy: a clinician's experience / G.W. Padberg -- Mapping of the FSHD gene and the discovery of the pathognomonic deletion / R.R. Frants [and others] -- Identification and characterization of candidate genes in FSHD region / S. van Koningsbruggen, R.R. Frants, S.M. van der Maarel -- Evolution and structural organization of the homeobox-containing repeat D4Z4 / J.E. Hewitt -- Subtelomeric exchange between 4q and 10q sequences / R.R. Frants, S.M. van der Maarel -- Genomic analysis of the subtelomeric regions of human chromosomes 10q and 4q: relevance to FSHD / M. van Geel, J.E. Hewitt -- The DUX gene family and FSHD / F. Coppie [and others] -- Facioscapulohumeral muscular dystrophy (FSHD): a disorder of muscle gene repression / R. Tupler, D. Gabellini -- Genotype-phenotype relationships in FSHD / P. Lunt, M. Upadhyaya, M.C. Koch -- Mosaicism and FSHD / P.G.M. van Overveld, R.R. Frants, S.M. van der Maarel -- Retinal vascular abnormalities in FSHD: a therapeutic message, clues to pathogenesis / R.B. Fitzsimons -- Unusual clinical features associated with FSHD / Y.K. Hayashi -- Molecular diagnosis of FSHD / R.J.L.F. Lemmers [and others] -- FSHD myoblasts: in vitro studies / D.A. Figlewicz [and others] -- Exploring hypotheses about the molecular aetiology of FSHD: loss of heterochromatin spreading and other long-range interaction models / M. Ehrlich -- Histological, immunological, molecular, and ultrastructural characteristics of FSHD muscle / M.T. Rogers, M. Upadhyaya, C.A. Sewry -- Linkage analysis in non-chromosome 4-linked FSHD / K. Bastress [and others] -- Facioscapulohumeral muscular dystrophy: gender differences and genetic counselling in a complex disorder / M. Manuela de Oliveira Tonini, M. Zatz -- Genetic counselling for facioscapulohumeral muscular dystrophy (FSHD) / P. Lunt -- Sarcolemmal reorganization in FSHD / P. Reed [and others] -- Expression profiling in FSHD / S.T. Winokur, Y.-W. Chen -- Therapeutic trials and medical management in FSHD / R. Tawil, R.C. Griggs
Bibliography Includes bibliographical references and index
Notes Appendix III in French
Print version record
Subject Facioscapulohumeral muscular dystrophy.
Genetics -- Technique.
Muscular Dystrophy, Facioscapulohumeral -- genetics
Muscular Dystrophy, Facioscapulohumeral
Genetic Techniques
MEDICAL -- Orthopedics.
HEALTH & FITNESS -- Diseases -- Musculoskeletal.
MEDICAL -- Rheumatology.
Genetics -- Technique
Facioscapulohumeral muscular dystrophy
Form Electronic book
Author Upadhyaya, M. (Meena)
Cooper, David N. (David Neil), 1957-
ISBN 0203483677