Changes of laminin beta 2 chain expression in congenital muscular dystrophy.
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.
Cohn
R D
RD
Universitätskinderklinik Essen, Germany.
Herrmann
R
R
Wewer
U M
UM
Voit
T
T
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D019085:Fluorescent Antibody Technique, Direct; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007797:Laminin / Q000096:biosynthesis* / Q000378:metabolism; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital* / Q000378:metabolism* / Q000473:pathology; D011247:Pregnancy
D007797:Laminin; C058783:laminin beta2