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Dystrophin analysis in the diagnosis of muscular dystrophy.
  1. A M Norman,
  2. H E Hughes,
  3. D Gardner-Medwin,
  4. L V Nicholson
  1. Institute of Medical Genetics, University Hospital of Wales, Cardiff.

    Abstract

    We present a family in which the differential diagnosis between X linked Duchenne muscular dystrophy and autosomal recessive Duchenne-like muscular dystrophy was resolved in favour of the latter by analysis of dystrophin, which is the protein product of the Duchenne muscular dystrophy locus.

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