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

Front Cover
Garland Science, Mar 1, 2004 - Medical - 250 pages
0 Reviews
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.
 

What people are saying - Write a review

We haven't found any reviews in the usual places.

Contents

1 Introduction and overview of FSHD
1
historical background and literature review
17
a clinicians experience
40
4 Mapping of the FSHD gene and the discovery of the pathognomonic deletion
54
5 Identification and characterization of candidate genes in the FSHD region
63
6 Evolution and structural organization of the homeoboxcontaining repeat D4Z4
83
7 Subtelomeric exchange between 4q and 10q sequences
96
relevance to FSHD
108
in vitro studies
249
loss of heterochromatin spreading and other longrange interaction
271
18 Histological immunocytochemical molecular and ultrastructural characteristics of FSHD muscle
293
19 Linkage analysis in nonchromosome 4linked FSHD
314
gender differences and genetic counselling in a complex disorder
324
21 Genetic counselling for facioscapulohumeral muscular dystrophy FSHD
340
22 Sarcolemmal reorganization in FSHD
356
23 Expression profiling in FSHD
370

9 The DUX gene family and FSHD
119
a disorder of muscle gene derepression
140
11 Genotypephenotype relationships in FSHD
155
12 Mosaicism and FSHD
173
a therapeutic message clues to pathogenesis?
191
14 Unusual clinical features associated with FSHD
201
15 Molecular diagnosis of FSHD
215
24 Therapeutic trials and medical management in FSHD
389
Appendix I
396
Appendix II
402
Appendix III
404
Index
405
Copyright

Common terms and phrases

Bibliographic information