title: Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome.
abstract: A previous study of two patients with Walker-Warburg syndrome (WWS) showed a severe deficiency of the extracellular matrix protein laminin beta2 chain and alpha-sarcoglycan (adhalin) in skeletal muscle fibers. More recently, however, other researchers have shown that in their WWS patients the expression of the laminin beta2 chain and alpha-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 beta2 chain and alpha-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.
authors.affiliation: Laboratory of Neuropathology, Institute of Neurological Sciences, University of Siena, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Villanova
authors.forename: P
authors.initials: P
authors.lastname: Sabatelli
authors.forename: Y
authors.initials: Y
authors.lastname: He
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: S
authors.initials: S
authors.lastname: Petrini
authors.forename: N M
authors.initials: NM
authors.lastname: Maraldi
authors.forename: L
authors.initials: L
authors.lastname: Merlini
mesh_terms: D001706:Biopsy; D001921:Brain / Q000473:pathology; D003598:Cytoskeletal Proteins / Q000378:metabolism; D005455:Fluorescent Antibody Technique; D006801:Humans; D007223:Infant; D007797:Laminin / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D008562:Membrane Glycoproteins / Q000378:metabolism; D009132:Muscles / Q000378:metabolism* / Q000473:pathology*; D009136:Muscular Dystrophies / Q000151:congenital* / Q000175:diagnosis / Q000378:metabolism* / Q000473:pathology; D012016:Reference Values; D049031:Sarcoglycans
chemical_list: D003598:Cytoskeletal Proteins; D007797:Laminin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans