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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, Non-P.H.S.
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adolescent
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Adult
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Aged
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Child
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Child, Preschool
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DNA Mutational Analysis
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Female
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Gene Deletion
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genotype
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Humans
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Male
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Middle Aged
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Mutation / genetics*
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Mutation, Missense / genetics
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Phenotype
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Protein Kinase C / chemistry
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Protein Kinase C / genetics*
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Protein Structure, Tertiary / genetics
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RNA Splice Sites / genetics
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Spinocerebellar Ataxias / enzymology*
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Spinocerebellar Ataxias / genetics*
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Spinocerebellar Ataxias / physiopathology
Substances
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RNA Splice Sites
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protein kinase C gamma
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Protein Kinase C