TY - JOUR
T1 - Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome
AU - Villanova, Marcello
AU - Sabatelli, Patrizia
AU - He, Yi
AU - Malandrini, Alessandro
AU - Petrini, Stefania
AU - Maraldi, Nadir M.
AU - Merlini, Luciano
PY - 1998/12
Y1 - 1998/12
N2 - A previous study of two patients with Walker-Warburg syndrome (WWS) showed a severe deficiency of the extracellular matrix protein laminin β2 chain and α-sarcoglycan (adhalin) in skeletal muscle fibers. More recently, however, other researchers have shown that in their WWS patients the expression of the laminin β2 chain and α-sarcoglycan was normal. Here we describe a 1-year-old boy affected with WWS. We performed immunohistochemical studies on a muscle biopsy from this patient using monoclonal antibodies against dystrophin, dystrophin-associated glycoproteins and several proteins of the extracellular matrix. We confirm previously reports as far as the diminished expression of laminin β2 chain and α-sarcoglycan is concerned. The expression of some other laminins was unusual, whereas the expression of collagen IV and VI was normal. These results suggest that complex syndromes like WWS are quite heterogeneous, although they might represent variant expressions of a single pathological entity.
AB - A previous study of two patients with Walker-Warburg syndrome (WWS) showed a severe deficiency of the extracellular matrix protein laminin β2 chain and α-sarcoglycan (adhalin) in skeletal muscle fibers. More recently, however, other researchers have shown that in their WWS patients the expression of the laminin β2 chain and α-sarcoglycan was normal. Here we describe a 1-year-old boy affected with WWS. We performed immunohistochemical studies on a muscle biopsy from this patient using monoclonal antibodies against dystrophin, dystrophin-associated glycoproteins and several proteins of the extracellular matrix. We confirm previously reports as far as the diminished expression of laminin β2 chain and α-sarcoglycan is concerned. The expression of some other laminins was unusual, whereas the expression of collagen IV and VI was normal. These results suggest that complex syndromes like WWS are quite heterogeneous, although they might represent variant expressions of a single pathological entity.
KW - Congenital muscular dystrophy
KW - Immunocytochemistry
KW - Laminin
KW - Muscle
KW - Walker-Warburg syndrome
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U2 - 10.1007/s004010050947
DO - 10.1007/s004010050947
M3 - Article
C2 - 9845296
AN - SCOPUS:0031739835
VL - 96
SP - 651
EP - 654
JO - Acta Neuropathologica
JF - Acta Neuropathologica
SN - 0001-6322
IS - 6
ER -