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Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings.
  1. L Nashef,
  2. B D Lake,
  3. A H Schapira
  1. Kent and Canterbury Hospital, Department of Neurology, London, UK.

    Abstract

    Two siblings with a congenital muscular dystrophy and severe mental retardation which was not due to dystrophin, merosin, or adhalin deficiency are described. These cases overlap with congenital muscular dystrophy of the Fukuyama-type but are less severe. Atypical features include limited facial involvement, retained ambulation, and severe retrocollis.

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