title: Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene.
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.
authors.affiliation: Department of Neuroscience, Monash University (Alfred Hospital Campus), Commercial Road, Melbourne, Victoria 3004, Australia.
authors.forename: M C
authors.initials: MC
authors.lastname: Fahey
authors.forename: M A
authors.initials: MA
authors.lastname: Knight
authors.forename: J H
authors.initials: JH
authors.lastname: Shaw
authors.forename: R J McK
authors.initials: RJ
authors.lastname: Gardner
authors.forename: D
authors.initials: D
authors.lastname: du Sart
authors.forename: P J
authors.initials: PJ
authors.lastname: Lockhart
authors.forename: M B
authors.initials: MB
authors.lastname: Delatycki
authors.forename: P C
authors.initials: PC
authors.lastname: Gates
authors.forename: E
authors.initials: E
authors.lastname: Storey
mesh_terms: D000328:Adult; D001315:Australia; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011493:Protein Kinase C / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000503:physiopathology
chemical_list: C087857:protein kinase C gamma; D011493:Protein Kinase C