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Mutations in gamma adducin are associated with inherited cerebral palsy.

Kruer, MC; Jepperson, T; Dutta, S; Steiner, RD; Cottenie, E; Sanford, L; Merkens, M; ... Houlden, H; + view all (2013) Mutations in gamma adducin are associated with inherited cerebral palsy. Ann Neurol , 74 (6) pp. 805-814. 10.1002/ana.23971. Green open access

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Abstract

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 in the genesis of the disease.

Type: Article
Title: Mutations in gamma adducin are associated with inherited cerebral palsy.
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/ana.23971
Publisher version: http://dx.doi.org/10.1002/ana.23971
Additional information: © 2013 American Neurological Association. Full text made available to UCL Discovery by kind permission of Wiley.
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/1413050
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