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Congenital Type II fibre deficient myopathy

Summary

A case of non-progressive congenital myopathy in a 14-month old male infant is described. The disorder is characterised histologically by a complete absence of Type II muscle fibres, hypoplastic Type I fibres of variable size and enlarged sarcolemmal nuclei. A neurogenic basis is proposed for this new myopathy.

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Dinn, J.J., O’Doherty, N. Congenital Type II fibre deficient myopathy. IJMS 149, 53–58 (1980). https://doi.org/10.1007/BF02939111

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  • DOI: https://doi.org/10.1007/BF02939111

Keywords

  • Myopathy
  • IRISH Journal
  • Fibre Type Composition
  • Congenital Myopathy
  • Central Core Disease