Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) are devastating disorders which result from mutations in the gene that encodes dystrophin, a skeletal muscle protein. We have developed a method to rapidly, robustly, and economically perform direct sequence analysis of the entire coding and regulatory regions of the dystrophin gene, greatly expediting the characterization of mutations of many dystrophinopathy patients. In addition, this direct sequence analysis allows us to determine whether variations in the gene which are not known to be disease-causing (called "polymorphisms") have some influence on the severity or course of the disease.

Using this methodology in a project funded by the National Institutes of Health, we will identify the mutations responsible for DMD and BMD in a large cohort of patients. From this same cohort, we will obtain a standardized and thorough phenotypic characterization by performing standardized clinical examinations. By correlating the genetic variation with severity of disease, we hope to gain a better understanding of how genetic mechanisms influence the disease.

Patient information

Dystrophin pages at the Utah Genome Depot

Investigator information