CLINICAL, MORPHOLOGICAL AND MOLECULAR STUDY OF ITALIAN PATIENTS WITH CONGENITAL MYOPATHY

The aim of this project is to evaluate the clinical, morphological, and genetic features in a large group of patients with congenital myopathy (CM). Although there has been an impressive increase in our knowledge of the genetic causes and the mechanisms of many newly recognised subgroups of CM, many of these cases have not been yet fully characterized. Our project can therefore contribute a better understanding of the spectrum of mutations associated with the known genes and more precise genotype-phenotype correlation. We also aim to identify distinct clinical entities among the cases who do not have any mutation in the known genes.