Clinical phenotypes study of autosomal recessive cerebellar ataxia type 1 caused by SYNE 1 gene mutations

被引：0
|
作者：
段晓慧 [1 ]
机构：
[1] Dept Neurol, China-Japan Friendship Hosp
来源：
China Medical Abstracts (Internal Medicine) | 2019年 / 36卷 / 04期
关键词：
Clinical phenotypes study of autosomal recessive cerebellar ataxia type 1 caused by SYNE 1 gene mutations;
D O I：
暂无
中图分类号：
R744.7 [遗传性共济失调];
学科分类号：
1002 ;
摘要：
Objective To investigate the clinical features of autosomal recessive cerebellar ataxia type 1(ARCA1) and analyze the pathogenic variants in SYNE 1 gene.Methods A cohort of 80 probands of autosomal recessive cerebellar ataxia pedigrees excluding Friedreich ataxia were detected by whole-exome sequencing technology.Poten-
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页码：235 / 235
页数：1
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