Stamelou, M; Tuschl, K; Chong, WK; Burroughs, AK; Mills, PB; Bhatia, KP; Clayton, PT; (2012) Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. Mov Disord , 27 (10) 1317 - 1322. 10.1002/mds.25138.
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The first gene causing early-onset generalized dystonia with brain manganese accumulation has recently been identified. Mutations in the SLC30A10 gene, encoding a manganese transporter, cause a syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia.
|Title:||Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.|
|Additional information:||PMCID: PMC3664426|
|Keywords:||Brain, Cation Transport Proteins, Chelating Agents, Dystonia, Female, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Manganese, Mutation, Pentetic Acid, Young Adult|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Motor Neuroscience and Movement Disorders|
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health > Department of Genes, Development and Disease > ICH - Clinical and Molecular Genetics
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