ABSTRACT
The limb-girdle muscular dystrophies (LGMD) comprise a group of disorders now known to reflect the whole spectrum of molecular pathogenesis of muscle disease. Initially identified as a heterogeneous set of muscular dystrophies predominandy affecting the pelvic and shoulder girdle musculature, the underlying molecular pathology has now been determined for three forms of autosomal dominant LGMD and ten forms of autosomal reces sive disease (Table l ) .1’2 Three further forms of autosomal dominant disease have been identi fied by linkage analysis but the genes remain to be elucidated. While the enhanced diagnostic techniques available through these discoveries mean that for many patients with LGMD a precise diagnosis is now available, with concomitant benefits for management and genetic counselling, the existence of some patients in whom a diagnosis cannot yet be achieved sug gests that more forms of LGMD remain to be characterized.
