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  • Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree.

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Research Article
Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree.
  1. G K Suthers,
  2. J I Manson,
  3. L M Stern,
  4. E A Haan,
  5. J C Mulley
  1. Department of Medical Genetics and Epidemiology, Adelaide Children's Hospital, South Australia.

    Abstract

    We describe a man with Becker muscular dystrophy whose weakness was minimal in contrast to that of his more severely affected nephews. This man had a Klinefelter karyotype (47,XXY) and his mild symptoms may be attributed to him being heterozygous for the muscular dystrophy gene. This is the first report of a person with both Klinefelter's syndrome and Becker muscular dystrophy. This combination may be one explanation for the variable expression of X linked muscular dystrophy noted in some pedigrees.

    https://doi.org/10.1136/jmg.26.4.251

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