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Sporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion.
  1. D Malapert,
  2. D Recan,
  3. F Leturcq,
  4. J D Degos,
  5. R K Gherardi
  1. Département de Neurosciences, Centre Hospitalo-Universitaire Henri Mondor, Créteil, France.

    Abstract

    A 25 year old woman, without family history of muscular dystrophy, had had an isolated lower limb hypertrophy since infancy and later experienced exercise-induced myalgia. Genomic DNA analysis showed a deletion of exons 45 to 52 of the dystrophin gene. Uncommon phenotypes of dystrophinopathies and consequences in genetic counselling in women are emphasised.

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