GENOTYPE – PHENOTYPE CORRELATION IN CONGENITAL MUSCULAR DYSTROPHY WITH DYSTROGLYCAN DEFICIENCY AND OTHER FORMS WITH MENTAL RETARDATION

The aim of this project is to evaluate the spectrum of mutations in the knwon genes in a cohort of patients with CMD and alpha dsytroglycan deficiency and in those with other forms with mental reatardation. Most of these patients have already been studied as part of a project on clinical, neuroradiological and hystopathological features in patients with CMD and mental retardation. This work is important as although there has been a dramatic increase in our knowledge of the genetic causes and of the mechanisms of many newly recognised forms of CMD, many of these cases have not been yet fully screened for the kwnown genes. Our project can therefore contribute to provide a better understanding of the spectrum of mutations associated with the known genes and of the phenotype- genotype correlation. We also aim to identify distinct clinical entities among the cases who do not have any mutation in the known genes as this could be the first step towards the recognition of new genes.