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Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.

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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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
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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