Spinocerebellar ataxia type 14:: study of a family with an exon 5 mutation in the PRKCG gene

被引：18

作者：

Fahey, MC

Knight, MA

Shaw, JH

Gardner, RJM

du Sart, D

Lockhart, PJ

Delatycki, MB

Gates, PC

Storey, E

机构：

[1] Monash Univ, Dept Med Neurosci, Melbourne, Vic 3004, Australia

[2] Dept Neurosci, Geelong, Vic, Australia

[3] Royal Childrens Hosp, Bruce Lefroy Ctr Genet Hlth Res, Melbourne, Vic, Australia

[4] Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic, Australia

[5] Genet Hlth Serv Victoria, Melbourne, Vic, Australia

来源：

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2005年 / 76卷 / 12期

关键词：

D O I：

10.1136/jnnp.2004.044115

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

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页码：1720 / 1722

页数：3

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