: Patients have a near-total lack of body fat from birth or early infancy.
: The lack of fat gives patients a highly defined, muscular look. CGL2.rar
: It is caused by mutations in the BSCL2 gene , which encodes the protein seipin . Seipin plays a critical role in lipid droplet formation and adipocyte (fat cell) maturation. Key Symptoms : : Patients have a near-total lack of body
CGL2, also known as , is a rare autosomal recessive metabolic disorder. also known as
: Unlike CGL Type 1, CGL2 is more frequently linked to neurological issues and cardiomyopathy. Other Potential Contexts