A mutation in Site ‐1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema

ConclusionThese findings suggest a critical function for S1P in several human organ systems and implicate an important role for S1P in various human disease states.

Source: Molecular Genetics & Genomic Medicine - May 7, 2019 Category: Genetics & Stem Cells Authors: George G. Schweitzer, Connie Gan, Robert C. Bucelli, Daniel Wegner, Robert E. Schmidt, Marwan Shinawi, Brian N. Finck, Rita T. Brookheart Tags: CLINICAL REPORT Source Type: research