Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies

Abstract

Muscular dystrophies include a spectrum of muscle disorders, some of which are phenotypically well characterized. The identification of dystrophin as the causative factor in Duchenne muscular dystrophy has led to the development of molecular genetics and has facilitated the division of muscular dystrophies into distinct groups, among which are the 'limb girdle muscular dystrophies'. This article reviews the methodology to be used in the diagnosis of muscular dystrophies, focused on the groups of limb girdle muscular dystrophies, and the development of new strategies to reach a final molecular diagnosis. A literature review (Medline) from 1985 to the present. Immunohistochemistry and western blotting analyses of the proteins involved in the various forms of muscular dystrophies have permitted a refined pathological approach necessary to conduct genetic studies and to offer appropriate genetic counseling. The application of molecular medicine in genetic muscular dystrophies also brings great hope to the therapeutic management of these patients.