Dystrophin

Dystrophin is a protein found in membranes surrounding individual muscle fibers, and its deficiency is one of the root causes of muscular dystrophy. It was first identified in 1987 by Louis M. Kunkel , after the 1986 discovery of the mutated gene that causes Duchenne muscular dystrophy (DMD).

Normal tissue contains small amounts of dystrophin (about 0.002% of total muscle protein), but its absence leads to both DMD and fibrosis, a condition of muscle hardening. A different mutation of the same gene causes defective dystrophin, leading to Becker's muscular dystrophy (BMD).

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