Article
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
Annals of neurology - 1 Apr 2013
Hersheson Joshua, Mencacci Niccolo E, Davis Mary, MacDonald Nicola, Trabzuni Daniah, Ryten Mina, Pittman Alan, Paudel Reema, Kara Eleanna, Fawcett Katherine, Plagnol Vincent, Bhatia Kailash P, Medlar Alan J, Stanescu Horia C, Hardy John, Kleta Robert, Wood Nicholas W, Houlden Henry
Abstract excerpt
Dystonia type 4 (DYT4) was first described in a large family from Heacham in Norfolk with an autosomal dominantly inherited whispering dysphonia, generalized dystonia, and a characteristic hobby horse ataxic gait. We carried out a genetic linkage analysis in the extended DYT4 family that spanned 7 generations from England and Australia, revealing a single LOD score peak of 6.33 on chromosome 19p13.12-13. Exome...
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