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.
15.1 Introduction
Molecular diagnosis can confirm FSHD in most cases by the detection of D4Z4 repeat contraction on 4q35 (FSHD1) (Wijmenga et al., 1992; recently reviewed by Upadhyaya and Cooper, 2002). Nowadays, diagnostic testing is increasingly used for the exclusion of patients with only mild neuromuscular presentation. However, the clinical variability and the genetic complexity of FSHD both complicate reliable diagnosis.
