الفهرس | Only 14 pages are availabe for public view |
Abstract The aim of this study is to review the literature about the genetics of muscuslar dystrophies and its implications for diagnosis and treatment. Conclusion Muscular dystrophies are a genetically heterogeneous group of degenerative muscle disorders. Many genes are known to give rise to various forms of muscular dystrophy, which differ in age of onset, severity, and muscle groups affected. The number of genes identified increases each year, adding to our understanding as well as revealing the overall complexity of the pathogenesis of these diseases. Classification of the muscular dystrophies is by no means academic as it is the only safe guide to prognosis and genetic counseling. It is mainly clinico-genetic classification. Despite the decades of intensive research into the cause of muscular dystrophy, the nature of the basic defect remained elusive until the cloning of the gene, which allowed the identification of the defective protein. Even with this new knowledge, the biological role of these poroteins remains somewhat speculative and our understanding of the disease remains incomplete. |