Changes of laminin beta 2 chain expression in congenital muscular dystrophy.

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.

• Authors: R D Cohn, R Herrmann, U M Wewer, T Voit
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 7 Issue 6-7 Pg. 373-8 (Sep 1997) ISSN: 0960-8966 [Print] England
• PMID: 9327401 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Laminin
• laminin beta2

Topics

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