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  • Title: Congenital neuromuscular disease with type I fibre hypotrophy, ophthalmoplegia and myofibril degeneration.
    Author: Sugie H, Hanson R, Rasmussen G, Verity MA.
    Journal: J Neurol Neurosurg Psychiatry; 1982 Jun; 45(6):507-12. PubMed ID: 7119813.
    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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