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.
22.1 Introduction
Facioscapulohumeral muscular dystrophy (FSHD) is linked to deletions of 3.3 kb repeats near the telomeric region of chromosome 4q (Wijmenga et al., 1990, 1991, 1992a,b; Gilbert et al., 1992; Mathews et al., 1992; Mills et al., 1992; Sarfarazi et al., 1992; Upadhyaya et al., 1992; Weiffenbach et al., 1992) which in turn alter the regulation of nearby genes (Gabellini et al., 2002) and possibly other genes as well (Tupler et al., 1999). The mechanism by which these changes become manifest as a muscular dystrophy is still far from clear.
