Muscle pathology and clinical features of the sarcolemmopathies

Pediatr Neurol. 1997 Jan;16(1):79-82. doi: 10.1016/s0887-8994(96)00265-2.

Abstract

We report the clinical features and the muscle pathology in 2 patients with congenital muscular dystrophy (CMD) secondary to merosin deficiency and in 2 patients with sarcoglycan (adhalin) deficiency. Electron microscopic examination revealed sarcolemmal defects in non-necrotic muscle fibers in all cases. These pathological findings are indistinguishable from those of Duchenne/Becker muscular dystrophy. We suggest that the similarities in histological findings reflect a common pathogenetic mechanism, i.e., a structural weakening of the sarcolemma with an increased susceptibility to rupture under mechanical stress. We propose the term sarcolemmopathy as an all-encompassing rubric for these disorders.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Cytoskeletal Proteins / deficiency*
  • Cytoskeletal Proteins / genetics
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Laminin / deficiency*
  • Laminin / genetics
  • Male
  • Membrane Glycoproteins / deficiency*
  • Membrane Glycoproteins / genetics
  • Microscopy, Electron
  • Muscle, Skeletal / pathology*
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Neurologic Examination
  • Sarcoglycans
  • Sarcolemma / pathology*

Substances

  • Cytoskeletal Proteins
  • Laminin
  • Membrane Glycoproteins
  • Sarcoglycans