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A Family with Spinocerebellar Ataxia Type 5 Found to Have a Novel Missense Mutation Within a SPTBN2 Spectrin Repeat
OBJECTIVE: Identification of a novel missense mutation in the SPTBN2 gene of a family with a clinical diagnosis of spinocerebellar ataxia type 5 (SCA5). METHODS: A family with late-onset autosomal dominant pure cerebellar ataxia, consistent with SCA5 but lacking previously reported SPTBN2 mutations,...
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2013
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3574192/ https://ncbi.nlm.nih.gov/pubmed/22843192 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12311-012-0408-0 |
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