title: Walker-Warburg syndrome: neurologic features and muscle membrane structure.
abstract: Walker-Warburg syndrome is an autosomal-recessive genetic disorder characterized by congenital muscular dystrophy in association with complex developmental abnormalities of the central nervous system and the eyes. Two patients with Walker-Warburg syndrome are presented to demonstrate clinical variability. Previously unreported pathologic findings involving heart, muscle, spinal cord, and gall bladder are described, and the literature is reviewed. Histopathologic studies of the muscle membrane protein network in both Walker-Warburg syndrome patients reveal a decreased immunostaining for laminin alpha2 and beta-dystroglycan. The clinical, histologic, and biochemical variability in Walker-Warburg patients may reflect heterogeneity.
authors.affiliation: Department of Neurology, University of Miami School of Medicine, Florida 33101, USA.
authors.forename: R J
authors.initials: RJ
authors.lastname: Kanoff
authors.forename: R G
authors.initials: RG
authors.lastname: Curless
authors.forename: C
authors.initials: C
authors.lastname: Petito
authors.forename: S
authors.initials: S
authors.lastname: Falcone
authors.forename: R M
authors.initials: RM
authors.lastname: Siatkowski
authors.forename: E
authors.initials: E
authors.lastname: Pegoraro
mesh_terms: D001921:Brain / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000378:metabolism*; D009124:Muscle Proteins / Q000378:metabolism*; D009136:Muscular Dystrophies / Q000151:congenital / Q000235:genetics*; D013577:Syndrome
chemical_list: D008565:Membrane Proteins; D009124:Muscle Proteins