Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation

BACKGROUND: Dystonia-deafness syndrome is a well-known clinical entity, with sensorineural deafness typically manifesting earlier than dystonia. ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset deafness and dystonia manifesting in adolescence or young...

Descripción completa

Detalles Bibliográficos
Autores principales: Skogseid, Inger Marie, Røsby, Oddveig, Konglund, Ane, Connelly, James P., Nedregaard, Bård, Jablonski, Greg Eigner, Kvernmo, Nadja, Stray-Pedersen, Asbjørg, Glover, Joel C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5964724/
https://www.ncbi.nlm.nih.gov/pubmed/29788902
http://dx.doi.org/10.1186/s11689-018-9235-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5964724/
https://www.ncbi.nlm.nih.gov/pubmed/29788902
http://dx.doi.org/10.1186/s11689-018-9235-z

Ejemplares similares