Familial multicore disease with focal loss of cross-striations and ophthalmoplegia

J Neurol Sci. 1981 Oct;52(1):1-10. doi: 10.1016/0022-510x(81)90129-5.

Abstract

Two brother are described with a congenital myopathy, including weakness of the external ocular muscles, whose biopsies showed multicores and focal loss of cross-striations, with failure of fibre type differentiation. In one patient changes in distribution and size of these core-like structures were observed in a second biopsy taken 5 years later. This family, together with others previously reported, may represent a genetically distinct subgroup of congenital multicore disease.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biopsy
  • Child
  • Humans
  • Male
  • Microscopy, Electron
  • Muscles / pathology
  • Muscles / ultrastructure
  • Muscular Diseases / complications
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Ophthalmoplegia / etiology*