Article
Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.
American journal of human genetics - 1 Jun 1994
Pegoraro E, Schimke R N, Arahata K, Hayashi Y, Stern H, Marks H, Glasberg M R, Carroll J E, Taber J W, Wessel H B
Abstract excerpt
Duchenne muscular dystrophy is one of the most common lethal monogenic disorders and is caused by dystrophin deficiency. The disease is transmitted as an X-linked recessive trait; however, recent biochemical and clinical studies have shown that many girls and women with a primary myopathy have an underlying dystrophinopathy, despite a negative family history for Duchenne dystrophy. These isolated female...
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