Article
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Human mutation - 1 Nov 2008
Manzini M Chiara, Gleason Danielle, Chang Bernard S, Hill R Sean, Barry Brenda J, Partlow Jennifer N, Poduri Annapurna, Currier Sophie, Galvin-Parton Patricia, Shapiro Lawrence R, Schmidt Karen, Davis Jessica G, Basel-Vanagaite Lina, Seidahmed Mohamed Z, Salih Mustafa A M, Dobyns William B, Walsh Christopher A
Abstract excerpt
Walker-Warburg syndrome (WWS) is a genetically heterogeneous autosomal recessive disease characterized by congenital muscular dystrophy, cobblestone lissencephaly, and ocular malformations. Mutations in six genes involved in the glycosylation of á-dystroglycan (POMT1, POMT2, POMGNT1, FCMD, FKRP and LARGE) have been identified in WWS patients, but account for only a portion of WWS cases. To better understand the...
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