ABSTRACT

FSHD Facioscapulohumeral Muscular Dystrophy: Clinical Medicine and Molecular Cell Biology, edited by Meena Upadhyaya and David N.Cooper. © 2004 Garland/BIOS Scientific Publishers Limited, Abingdon.

1.1 Introduction

FSHD is a unique genetic disorder. For a long time, the molecular basis of this condition was enigmatic. Indeed, some 13 years elasped between the mapping of the chromosomal location of the gene and deducing the nature of the unique molecular mechanism underlying the disease. The last decade has thus been an extremely exciting one for FSHD research (Figure 1.1). During this time it is clear that there has been a very significant increase in our knowledge of the molecular genetics of FSHD.