DYSF : dysferlin

Description

The DYSF gene provides instructions for making a protein called dysferlin. This protein is crucial for muscle repair and function. It helps to seal tears in muscle fibers and plays a role in the fusion of muscle cells during development. When the DYSF gene is mutated, it can lead to various muscle disorders, impacting individuals‘ ability to move and perform daily activities.

Associated Diseases

• Limb-girdle muscular dystrophy type 2B (LGMD2B)
• Miyoshi myopathy
• Distal muscular dystrophy
• Facioscapulohumeral muscular dystrophy (rare cases)
• Myopathies with other clinical presentations

Did you know?

Dysferlin is also found in other tissues besides muscle, including the brain and heart, suggesting it may have broader roles in the body.