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Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings
Spinocerebellar ataxia 17 (SCA17) is an autosomal dominant neurodegenerative disease clinically characterized by the presence of cerebellar ataxia in combination with variable neurological symptoms. Here we report a Chinese SCA17 family which proband's clinical manifestation was inconsistent wi...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications & Media Pvt Ltd
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841636/ https://www.ncbi.nlm.nih.gov/pubmed/24339615 http://dx.doi.org/10.4103/0972-2327.120457 |