title: Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy.
abstract: A female patient who fulfilled the diagnostic criteria of Walker-Warburg syndrome had muscle biopsy finding of muscular dystrophy. There was normal expression of merosin (laminin alpha2 chain) and dystrophin and only slightly reduced dystrophin-associated glycoprotein expression. On genetic analysis, she had no specific haplotype, the common mutation of 3kb insertion, or point mutations in the Fukuyama-type congenital muscular dystrophy gene, suggesting that the two diseases are not genetically identical.
authors.affiliation: Department of Pediatrics, Nagasaki University School of Medicine, Nagasaki, Japan. yuko-cha@pop21.odn.ne.jp
authors.forename: Y
authors.initials: Y
authors.lastname: Chadani
authors.forename: T
authors.initials: T
authors.lastname: Kondoh
authors.forename: N
authors.initials: N
authors.lastname: Kamimura
authors.forename: T
authors.initials: T
authors.lastname: Matsumoto
authors.forename: T
authors.initials: T
authors.lastname: Matsuzaka
authors.forename: O
authors.initials: O
authors.lastname: Kobayashi
authors.forename: E
authors.initials: E
authors.lastname: Kondo-Iida
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: T
authors.initials: T
authors.lastname: Toda
mesh_terms: D000483:Alleles; D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D011859:Radiography; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013577:Syndrome