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Article

Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).

Journal of neurology, neurosurgery, and psychiatry - 1 Dec 2008

Zirn B, Grundmann K, Huppke P, Puthenparampil J, Wolburg H, Riess O, Müller U

Abstract excerpt

BACKGROUND: The three-nucleotide deletion, triangle upGAG (within the gene TOR1A), is the only proven cause of childhood-onset dystonia (DYT1). A potentially pathogenic role of additional sequence changes within TOR1A has not been conclusively shown. METHODS: DNA sequencing of exon 5 of TOR1A in a patient with DYT1. RESULTS: Detection of sequence change c.863G>A in exon 5 of TOR1A in the patient. The G>A...

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PMID: 18477710
DOI: 10.1136/jnnp.2008.148270

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