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

@article{Chadani2000WalkerWarburgSI,
  title={Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy.},
  author={Y Chadani and Tatsuro Kondoh and Norihito Kamimura and Toshio Matsumoto and Tetsuo Matsuzaka and Osamu Kobayashi and Eri Kondo-Iida and Keiko Kobayashi and Ikuya Nonaka and Tatsushi Toda},
  journal={Journal of the neurological sciences},
  year={2000},
  volume={177 2},
  pages={150-3}
}
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… CONTINUE READING