Facioscapulohumeral Muscular Dystrophy (FSHD)

David Cooper

1. Introduction and Overview of FSHD. 2. Facioscapulohumeral Muscular Dystrophy: Historical Background and Literature Review. 3. Facioscapulohumeral Muscular Dystrophy: A Clinician's Experience. 4. Mapping of the FSHD Gene and the Discovery of the Pathognomonic Deletion. 5. Identification and Characterization of Candidate Genes in FSHD Region. 6. Evolution of Structural Organization of the Homeobox-Containing Repeat D4Z4. 7. Subtelomeric Exchange Between 4q and 10q Sequences. 8. Genomic Analysis of the Subtelomeric Regions of Human Chromosomes 10q and 4q: Relevance to FSHD. 9. The DUX Gene Family and FSHD. 10. Facioscapulohumeral Muscular Dystrophy (FSHD): A disorder of Muscle Gene Repression. 11. Genotype-Phenotype Relationships in FSHD. 12. Mosaicism and FSHD. 13. Retinal Vascular Abnormalities in FSHD: A Therapeutic Message; Clues to Pathogenesis. 14. Unusual Clinical Features Associated with FSHD. 15. Molecular Diagnosis of FSHD.16. FSHD Myoblasts: in vitro Studies. 17. Exploring Hypotheses about the Molecular Aetiology of FSHD: Loss of Heterochromatin Spreading and other Long-range Interaction models. 18. Histological, Immunological, Molecular and Ultrastructural Characteristics of FSHD Muscle. 19. Linkage Analysis in Non-Chromosome 4-Linked FSHD. 20. Facioscapulohumeral Muscular Dystrophy: Gender Differences and Genetic Counselling in a Complex Disorder. 21. Genetic Counseling for Facioscapulohumeral Muscular Dystrophy (FSHD). 22. Sarcolemmal Reorganization in FSHD. 23. Expression Profiling in FSHD. 24. Therapeutic Trials and Medical Management in FSHD.