A mutation in Site-1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema.
George G SchweitzerConnie GanRobert C BucelliDaniel WegnerRobert E SchmidtMarwan ShinawiBrian N FinckRita T BrookheartPublished in: Molecular genetics & genomic medicine (2019)
These findings suggest a critical function for S1P in several human organ systems and implicate an important role for S1P in various human disease states.