Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene.
case_report · Level V
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- Record sourced from PubMed, PMID 16291902.
- Also identified by PMC identifier 1739431.
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Abstract
We report our observations in an Australian family with spinocerebellar ataxia type 14 (SCA 14). We describe a novel mutation in exon 5 of the PRKCG gene, altering a highly conserved cysteine to a phenylalanine at codon 150, and record the detailed clinical observations in six affected family members.
Medical subject headings
- Protein Kinase C
- Spinocerebellar Ataxias