Stamelou, M and Tuschl, K and Chong, WK and Burroughs, AK and Mills, PB and Bhatia, KP and 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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Abstract
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.
| Type: | Article |
|---|---|
| Title: | Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. |
| Location: | United States |
| DOI: | 10.1002/mds.25138 |
| Language: | English |
| 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 Medical Sciences > Medicine (Division of) 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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