Co-existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy

Neuropathology. 2002 Dec;22(4):294-8. doi: 10.1046/j.1440-1789.2002.00461.x.

Abstract

A sporadic case of congenital myopathy had severe muscle weakness of neonatal onset. Nemaline and cytoplasmic bodies were detected in muscle biopsies taken at 4 months of age. These findings were consistent with a diagnosis of nemaline myopathy (severe neonatal form). The simultaneous and abundant presence of these two types of sarcoplasmic inclusion has been found in only a few cases. However, these cases suggest that the sarcoplasmic inclusions may be formed, at least partially, by common mechanisms.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Cytoplasmic Granules / pathology
  • Cytoplasmic Granules / ultrastructure
  • Humans
  • Inclusion Bodies / pathology*
  • Inclusion Bodies / ultrastructure
  • Infant
  • Infant, Newborn
  • Male
  • Muscle, Skeletal / pathology*
  • Muscle, Skeletal / ultrastructure
  • Myopathies, Nemaline / pathology*
  • Myopathies, Nemaline / ultrastructure