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Updated: Aug 18, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy
Y Chadani1, T Kondoh, N Kamimura
1Department of Pediatrics, Nagasaki University School of Medicine, Nagasaki, Japan. yuko-cha@pop21.odn.ne.jp
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.
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