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Congenital neuromuscular disease with type I fibre hypotrophy, ophthalmoplegia and myofibril degeneration.
  1. H Sugie,
  2. R Hanson,
  3. G Rasmussen,
  4. M A Verity

    Abstract

    We report a 7-year-old boy with progressive, early onset somatic and cranial muscle weakness associated with external ophthalmoplegia, facial weakness, type I fibre hypotrophy and myofibril degeneration. We separate this condition from congenital fibre type disproportion because of the facial weakness, ophthalmoplegia, central nucleation, and lysis in type I fibres. The case, which is similar to that described by Bender and Bender (1977), nosologically should be classified between the centronuclear myopathies and congenital fibre type disproportion, and most likely represents a congenital or neonatal disturbance of trophic interaction between nerve and muscle.

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