Genetic Considerations

The DMD gene is the largest known human gene. It provides instructions for making a protein called dystrophin. The gene makes many different versions of dystrophin, some of which are specific to certain cell types. Dystrophin is located chiefly in muscle cells, with small amounts of the protein present in nerve cells in the brain. The dystrophinopathies are mainly inherited in an X-linked recessive pattern. Prenatal testing of at-risk pregnancies is possible if the family mutation has been identified.

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