doi: 10.1212/01.WNL.0000156801.64549.6B.
The clinical and genetic spectrum of spinocerebellar ataxia 14
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- PMID: 15824357
- DOI: 10.1212/01.WNL.0000156801.64549.6B
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The clinical and genetic spectrum of spinocerebellar ataxia 14
Neurology.
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Abstract
Spinocerebellar ataxia 14 (SCA14) is associated with missense mutations in the protein kinase C gamma gene (PRKCG), rather than a nucleotide repeat expansion. In this large-scale study of PRKCG in patients with ataxia, two new missense mutations, an in-frame deletion, and a possible splice site mutation were found and can now be added to the four previously described missense mutations. The genotype/phenotype correlations in these families are described.
Comment in
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Spinocerebellar ataxia type 14: opening a new door in dominant ataxia research?Neurology. 2005 Apr 12;64(7):1113-4. doi: 10.1212/01.WNL.0000160013.10806.53. Neurology. 2005. PMID: 15824330 No abstract available.
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