What Happens When Dystrophin is Deficient or Mutated?
Mutations in the dystrophin gene can lead to a spectrum of muscle diseases, the most notable being Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). In DMD, the absence of functional dystrophin results in severe muscle degeneration and weakness, typically manifesting in early childhood. BMD, on the other hand, is characterized by a partially functional dystrophin protein, leading to a milder but still progressive muscle weakness.
