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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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| Publicado no: | Neurogenetics |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5359383/ https://ncbi.nlm.nih.gov/pubmed/28229249 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-017-0510-z |
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