Research to Explore Genetic Variants of Unknown Significance

If you have been diagnosed with limb girdle muscular dystrophy and have a genetic variant of unknown significance, you may be eligible to enroll in this research through Emory.  

The purpose of this study is to understand the genetic cause of Pompe disease and LGMD in order to facilitate faster molecular diagnosis. Researchers will be using functional molecular experiments in clinical cases where definitive molecular diagnosis could not be performed due to the finding of genetic variants of uncertain significance (VUS) and cases with pathogenic genetic mutations in multiple genes. A total of 350 individuals will be recruited for this study. Click here for more details.