Duchenne Muscular Dystrophy and Becker Muscular Dystrophy: Professional Version | DuchenneXchange

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Duchenne Muscular Dystrophy and Becker Muscular Dystrophy: Professional Version

key information

source: MSD Manual

authors: Michael Rubin

summary/abstract:

Duchenne dystrophy and Becker dystrophy are the second most prevalent muscular dystrophy. They are caused by mutations of the dystrophin gene, the largest known human gene, at the Xp21.2 locus. In Duchenne dystrophy, this mutation results in the severe absence (< 5%) of dystrophin, a protein in the muscle cell membrane. In Becker dystrophy, the mutation results in production of abnormal dystrophin or insufficient dystrophin.

Duchenne dystrophy and Becker dystrophy together affect 5/1000 people; the majority have Duchenne. Female carriers may have asymptomatic elevated CK levels and possibly calf hypertrophy.

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