SGCE

Description

The SGCE gene, located on chromosome 19, encodes for a protein called sarcoglycan epsilon. This protein is a component of the sarcoglycan complex, a group of proteins that are essential for the stability and function of muscle fibers. Mutations in the SGCE gene can lead to a range of muscle disorders, particularly affecting the skeletal muscles. Understanding the role of the SGCE gene and its associated disorders is crucial for developing effective diagnostic and therapeutic strategies.

Associated Diseases

• Limb-girdle muscular dystrophy type 2C (LGMD2C)
• Myopathy with early respiratory failure (MERF)
• Spinal muscular atrophy with respiratory distress type 1 (SMARD1)
• Congenital muscular dystrophy with joint contractures (CMD-JC)
• Scapuloperoneal muscular dystrophy (SPMD)

Did you know?

SGCE gene mutations are not always associated with a clear clinical phenotype, making diagnosis challenging. Some individuals with mutations may experience mild or no symptoms, while others may have severe muscle weakness.