How Do Mutations in the Dystrophin Gene Cause Disease?
Mutations in the dystrophin gene can disrupt the production of functional dystrophin protein. In DMD, mutations usually lead to a complete absence of dystrophin, resulting in severe muscle degeneration and weakness. In BMD, mutations lead to a partially functional dystrophin, causing milder symptoms compared to DMD. Both conditions can significantly impact mobility, respiratory function, and cardiac health.
