Changes of laminin beta 2 chain expression in congenital muscular dystrophy
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Changes of laminin beta 2 chain expression in congenital muscular dystrophy. / Cohn, R D; Herrmann, R; Wewer, U M; Voit, T.
I: Neuromuscular Disorders, Bind 7, Nr. 6-7, 01.09.1997, s. 373-8.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Changes of laminin beta 2 chain expression in congenital muscular dystrophy
AU - Cohn, R D
AU - Herrmann, R
AU - Wewer, U M
AU - Voit, T
PY - 1997/9/1
Y1 - 1997/9/1
N2 - 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.
AB - 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.
KW - Adolescent
KW - Child
KW - Child, Preschool
KW - Female
KW - Fluorescent Antibody Technique, Direct
KW - Humans
KW - Immunohistochemistry
KW - Infant
KW - Laminin
KW - Male
KW - Muscular Dystrophies
KW - Pregnancy
M3 - Journal article
C2 - 9327401
VL - 7
SP - 373
EP - 378
JO - Journal of Neuromuscular Diseases
JF - Journal of Neuromuscular Diseases
SN - 0960-8966
IS - 6-7
ER -
ID: 34325896