At the WMS 2022 conference, researchers shed light on the impact of variants of unknown significance (VUS) in sarcoglycanopathies with the use of new technologies, such as deep mutational scanning (DMS) and high throughput functional testing.
It is well established that recessive mutations in the genes SGCA, SGCB, and SGCG can cause limb-girdle muscular dystrophy (LGMD) R3, R4, and R5, respectively.