Fatal neonatal nemaline myopathy: a case report

J Neurol Neurosurg Psychiatry. 1983 Sep;46(9):856-9. doi: 10.1136/jnnp.46.9.856.

Abstract

A fatal neonatal nemaline myopathy in a Japanese girl was described. The patient was hypotonic at birth and failed to establish effective respiration. Rod-like structures were observed within a variety of skeletal muscles, particularly in the diaphragm. This is the first case of fatal neonatal nemaline myopathy in which many satellite cells were observed.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Female
  • Humans
  • Inclusion Bodies / ultrastructure*
  • Infant, Newborn
  • Microscopy, Electron
  • Muscle Hypotonia / pathology*
  • Muscles / pathology
  • Neuromuscular Diseases / pathology*
  • Respiratory Distress Syndrome, Newborn / pathology*