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.

14.1 Introduction

Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly inherited myopathy usually associated with a deletion of 3.3 kb KpnI repeated units (D4Z4) on chromosome 4q35 (FSHMD1A; MIM 158900).