Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients

Neurology. 2001 Dec 11;57(11):2136-8. doi: 10.1212/wnl.57.11.2136.

Abstract

Inflammation was detected in 9 of 13 patients with different phenotypes of dysferlin myopathy. Endomysial or perivascular infiltrates consisted of 11.1% +/- 6.6% CD8(+) cells, 40.6% +/- 22.8% CD4(+) cells, 36.7% +/- 23.7% macrophages, and no B cells. Major histocompatibility complex class I was not upregulated in normal muscle fibers. In young patients with sporadic proximal weakness, very high creatine kinase levels, necrotic fibers and inflammation in the muscle biopsy, a diagnosis of dysferlin myopathy should be considered.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Biopsy
  • CD4-Positive T-Lymphocytes / pathology*
  • CD8-Positive T-Lymphocytes / pathology*
  • Chromosomes, Human, Pair 2*
  • Dysferlin
  • Female
  • Humans
  • Male
  • Membrane Proteins*
  • Muscle Proteins / genetics*
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Myositis / genetics*
  • Myositis / pathology

Substances

  • DYSF protein, human
  • Dysferlin
  • Membrane Proteins
  • Muscle Proteins