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Duchenne's dystrophy in females

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Typical clinical symptoms of Duchenne-Griesinger syndrome in females.

Description

21: Occasionally, female may present typical clinical symptoms of Duchenne-Griesinger syndrome. The course is usually mild and slowly evolving. Etiology unknown. Only females are carriers of the condition, since it has a recessive sex-linked type of transmission. Carrier without clinical manifestations may be identified in approximately 80% of cases by biochemical studies; increase of creatine phosphokinase.

Bibliography

  • C. M. Pearson, W. M Fowler, S. W. Wright:
    X-chromosome mosaicism in females with muscular dystrophy.
    Proceedings of the National Academy of Sciences of the United States of America, Washington, 1963, 50: 24.

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