X-linked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibers

Ann Neurol. 1995 May;37(5):637-45. doi: 10.1002/ana.410370514.

Abstract

We describe a probable recessive X-linked myopathy characterized by the presence of vacuolated muscle fibers. Four males and their shared maternal grandfather were affected. Clinical characteristics include juvenile onset, very slow progression, and predominant proximal muscle involvement. The clinical picture and the morphological findings are compared with those previously described in a family. By immunofluorescence, all histologically abnormal muscle fibers, in particular those vacuolated, showed a strong deposition of the complement C5b-9 membrane attack complex over the whole muscle fiber surface. Weak immunostaining for membrane attack complex was also found in endomysial capillaries and perimysial vessel walls. Muscle fibers showed sarcolemmal immunolabeling with anti-major histocompatibility complex I, which was also present on the margins of many vacuoles. All vacuoles were stained by antidystrophin antibody, which colocalized in most of them with antilaminin immunostaining. Taken together, these results suggest that the deposition of membrane attack complex on the damaged cell surface membrane could be important in the pathogenesis of this muscle disorder, and that the membrane-bounded vacuoles could be a consequence of sarcolemmal invagination.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cell Membrane / immunology
  • Cell Membrane / ultrastructure
  • Complement Membrane Attack Complex / metabolism*
  • Female
  • Fluorescent Antibody Technique
  • Genetic Linkage*
  • Humans
  • Male
  • Microscopy, Immunoelectron
  • Middle Aged
  • Muscle Fibers, Skeletal / immunology
  • Muscle Fibers, Skeletal / ultrastructure*
  • Muscular Diseases / genetics
  • Muscular Diseases / immunology
  • Muscular Diseases / pathology*
  • Pedigree
  • Vacuoles / ultrastructure*
  • X Chromosome*

Substances

  • Complement Membrane Attack Complex