Novel mutation of SLC20A2 in a Chinese family with primary familial brain calcification
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- 作者：Xiaomin Liu1 ; Gaoting Ma1 ; Zhangning Zhao ; Fei Mao ; Jiyou Tang ; Xiuhua Li ; Meijia Zhu ; zhumeijiasd@163.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：Primary familial brain calcification ; SLC20A2 ; Mutation
- 刊名：Journal of the Neurological Sciences
- 出版年：2016
- 出版时间：15 January 2016
- 年：2016
- 卷：360
- 期：Complete
- 页码：1-3
- 全文大小：538 K
文摘
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A novel SLC20A2 mutation, c.1790G → A, was identified in a Primary familial brain calcification family.
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Finding of the novel SLC20A2 mutation enlarges the mutational spectrum of SLC20A2 mutations.
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The patient with the novel SLC20A2 mutation presented with dizziness and muscle cramps in lower limbs.