Pedigree analysis of DYNC1H1 p. P776L mutation in a family with spinal muscular atrophy

被引：0
|
作者：
王晓娟 [1 ]
机构：
[1] Dept Neurol,People’s Hosp, Zhengzhou Univ
来源：
China Medical Abstracts(Internal Medicine) | 2019年 / 36卷 / 01期
关键词：
P776L mutation in a family with spinal muscular atrophy;
D O I：
暂无
中图分类号：
R746.4 [肌萎缩];
学科分类号：
1002 ;
摘要：
Objective To analyze the clinical and electrophysiological features in a family with spinal muscular atrophy(SMA),and assess the probable causative gene mutations for the family. Methods To identify the nosogenesis of the proband with weakness and atrophy in the double lower proximal limbs,clinical data of his 12 family members were collected,and the proband and his mother
引用
收藏
页码：61 / 62
页数：2
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