Facioscapulohumeral Muscular Dystrophy (FSHD) : Clinical Medicine and Molecular Cell Biology

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder involving slowly progressive muscle degeneration in which the muscles of the face, shoulder blades and upper arms are among the most severely affected. It is the third most common inherited muscular dystrophy, affecting 1 in 20,000. The search for the molecular basis of the disease is of interest to all genetic researchers, involving a deletion outside a coding region resulting in over-expression of adjacent genes. This volume summarizes the current understanding of the disorder, including clinical, molecular and therapeutic aspects. 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 ... [et Al.] -- 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 ... [et Al.] -- 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 ... [et Al.] -- Fshd Myoblasts: In Vitro Studies / D.a. Figlewicz ... [et Al.] -- 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 ... [et Al.]. 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 ... [et Al.] -- Expression Profiling In Fshd / S.t. Winokur, Y.-w. Chen -- Therapeutic Trials And Medical Management In Fshd / R. Tawil, R.c. Griggs. Edited By Meena Upadhyaya And David N. Cooper. Includes Bibliographical References And Index.