14型脊髓小脑共济失调：一个PRKCG基因第5外显子突变家族的研究
Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene.
作者信息
Fahey M C, Knight M A, Shaw J H, Gardner R J McK, du Sart D, Lockhart P J, Delatycki M B, Gates P C, Storey E
机构信息
Department of Neuroscience, Monash University (Alfred Hospital Campus), Commercial Road, Melbourne, Victoria 3004, Australia.
出版信息
J Neurol Neurosurg Psychiatry. 2005 Dec;76(12):1720-2. doi: 10.1136/jnnp.2004.044115.
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.
摘要
我们报告了对一个患有14型脊髓小脑共济失调（SCA 14）的澳大利亚家族的观察结果。我们描述了PRKCG基因第5外显子中的一个新突变，该突变将密码子150处一个高度保守的半胱氨酸改变为苯丙氨酸，并记录了6名受影响家族成员的详细临床观察情况。
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