Article
Mutations in γ adducin are associated with inherited cerebral palsy.
Annals of neurology - 1 Dec 2013
Kruer Michael C, Jepperson Tyler, Dutta Sudeshna, Steiner Robert D, Cottenie Ellen, Sanford Lynn, Merkens Mark, Russman Barry S, Blasco Peter A, Fan Guang, Pollock Jeffrey, Green Sarah, Woltjer Randall L, Mooney Catherine, Kretzschmar Doris, Paisán-Ruiz Coro, Houlden Henry
Abstract excerpt
OBJECTIVE: Cerebral palsy is estimated to affect nearly 1 in 500 children, and although prenatal and perinatal contributors have been well characterized, at least 20% of cases are believed to be inherited. Previous studies have identified mutations in the actin-capping protein KANK1 and the adaptor protein-4 complex in forms of inherited cerebral palsy, suggesting a role for components of the dynamic cytoskeleton...
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