1. A mutation in Site‐1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema. Issue 7 (8th May 2019) Authors: Schweitzer, George G.; Gan, Connie; Bucelli, Robert C.; Wegner, Daniel; Schmidt, Robert E.; Shinawi, Marwan; Finck, Brian N.; Brookheart, Rita T. Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 7(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗