Mutations in the Autoregulatory Domain of β-Tubulin 4a Cause Hereditary Dystonia

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 g...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698699/
https://www.ncbi.nlm.nih.gov/pubmed/23424103
http://dx.doi.org/10.1002/ana.23832

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698699/
https://www.ncbi.nlm.nih.gov/pubmed/23424103
http://dx.doi.org/10.1002/ana.23832

Ejemplares similares