Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy

A female patient who fulfilled the diagnostic criteria of Walker-Warburg sy ndrome had muscle biopsy finding of muscular dystrophy. There was normal ex pression of merosin (laminin alpha 2 chain) and dystrophin and only slightl y reduced dystrophin-associated glycoprotein expression. On genetic analysi s, she had no specific haplotype, the common mutation of 3kb insertion, or point mutations in the Fukuyama-type congenital muscular dystrophy gene, su ggesting that the two diseases are not genetically identical. (C) 2000 publ ished by Elsevier Science B.V.