Dystonia with Brain Manganese Accumulation Resulting From SLC30A10 Mutations: A New Treatable Disorder

BACKGROUND: 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. METHODS: We pres...

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Detalles Bibliográficos
Autores principales: Stamelou, Maria, Tuschl, Karin, Chong, W K, Burroughs, Andrew K, Mills, Philippa B, Bhatia, Kailash P, Clayton, Peter T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2012
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3664426/
https://www.ncbi.nlm.nih.gov/pubmed/22926781
http://dx.doi.org/10.1002/mds.25138

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