ADCY5-related dyskinesia presenting as familial myoclonus-dystonia

We describe a family with an autosomal dominant familial dyskinesia resembling myoclonus-dystonia associated with a novel missense mutation in ADCY5, found through whole-exome sequencing. A tiered analytical approach was used to analyse whole-exome sequencing data from an affected grandmother-grandd...

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Detalles Bibliográficos
Autores principales: Douglas, Andrew G. L., Andreoletti, Gaia, Talbot, Kevin, Hammans, Simon R., Singh, Jaspal, Whitney, Andrea, Ennis, Sarah, Foulds, Nicola C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5359383/
https://www.ncbi.nlm.nih.gov/pubmed/28229249
http://dx.doi.org/10.1007/s10048-017-0510-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5359383/
https://www.ncbi.nlm.nih.gov/pubmed/28229249
http://dx.doi.org/10.1007/s10048-017-0510-z

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