Brain dystrophinopathies and cognitive impairment: Pathogenesis, diagnosis, and therapies.

Abstract excerpt

The dystrophin protein plays a critical role not only in muscles but also in the central nervous system. The absence of and mutations in the Duchenne muscular dystrophy gene (the dystrophin gene) (DMD), which encodes the dystrophin protein, lead to progressive muscle degeneration. In addition, these deficiencies result in impaired brain functions with varying clinical outcomes. Several studies have shown that...

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