Changes of laminin beta 2 chain expression in congenital muscular dystrophy

Neuromuscul Disord. 1997 Sep;7(6-7):373-8. doi: 10.1016/s0960-8966(97)00072-2.

Abstract

We studied the distribution of laminin beta 2 chain in the skeletal muscle basement membrane of 16 patients with congenital muscular dystrophy (CMD) by immunohistochemistry. A dramatic reduction in the laminin beta 2 staining was observed in four patients with classical merosin-negative CMD. A moderate reduction of laminin beta 2 labelling was observed in four patients with partial merosin deficiency and two patients with merosin-positive CMD. Two patients with merosin-positive CMD had no apparent changes in the expression of laminin beta 2. In three patients and one fetus diagnosed as Walker-Warburg syndrome (WWS) the laminin beta 2 pattern was similar to normal controls. We conclude that a primary deficiency in the laminin alpha 2 chain may lead to a vast or moderate reduction in the laminin beta 2 chain in the skeletal muscle membrane.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Female
  • Fluorescent Antibody Technique, Direct
  • Humans
  • Immunohistochemistry
  • Infant
  • Laminin / biosynthesis*
  • Laminin / metabolism
  • Male
  • Muscular Dystrophies / congenital*
  • Muscular Dystrophies / metabolism*
  • Muscular Dystrophies / pathology
  • Pregnancy

Substances

  • Laminin
  • laminin beta2