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.
5.1 Position effect as the underlying mechanism in FSHD
The nature of the DNA rearrangement associated with FSHD, a partial deletion of the D4Z4 repeat array in the subtelomere of 4q35, has seriously complicated the identification of the FSHD gene(s). Instead of a structural rearrangement (mutation) within a gene as usually found in monogenic disorders, it is becoming increasingly evident that FSHD is caused by a rather unusual genetic mechanism: position effect variegation.
