Complete molecular characterization of patients affected by congenital muscular dystrophies with alpha-dystroglycan defect using next generation sequencing strategies

Congenital muscular dystrophies related to alpha-dystroglycan defect are a heterogeneous group of neurodegenerative disorders characterized by variable involvement of muscle, brain and eye encompassing a striking range of clinical severity. So far defects in almost 20 genes have been defined but not all the patients have been studied for the less common forms and significant part of the cases remain undefined. We have already established an Italian network for clinical and genetic diagnosis of CMD, and we are carrying out a web-based database which will contemplate also longitudinal studies. With this project we aimed to complete the genetic characterization of molecularly undefined patients using new tools for genetic diagnosis and to identify new CMD-related genes.