IMMUNOFLUORESCENCE STUDY OF A MUSCLE BIOPSY FROM A 1-YEAR-OLD PATIENTWITH WALKER-WARBURG-SYNDROME

A previous study of two patients with Walker-Warburg syndrome (WWS) sh owed a severe deficiency of the extracellular matrix protein laminin b eta 2 chain and alpha-sarcoglycan (adhalin) in skeletal muscle fibers. More recently, however, other researchers have shown that in their WW S patients the expression of the laminin beta 2 chain and alpha-sarcog lycan 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-as sociated glycoproteins and several proteins of the extracellular matri x. We confirm previously reports as far as the diminished expression o f laminin beta 2 chain and alpha-sarcoglycan is concerned. The express ion of some other laminins was unusual, whereas the expression of coll agen IV and VI was normal. These results suggest that complex syndrome s like WWS are quite heterogeneous, although they might represent vari ant expressions of a single pathological entity.