A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.

Yi Dai,Xiaoming Wei,Yanhuan Zhao,Haitao Ren,Zhangzhang Lan,Yun Yang,Lin Chen,Liying Cui

Neuromuscular Disorders（2015）

引用 31|浏览55

暂无评分

摘要

•A single-center prospective diagnostic study on inherited myopathy.•Using targeted next-generation sequencing technology.•36 (65%) patients were found to have a causative mutation.•Disease distribution and mutation types in Chinese are different.•LMNA gene has some point mutation hotspots.

查看译文

关键词

Muscular dystrophy,Congenital myopathy,Targeted next-generation sequencing,Prospective diagnostic study,Chinese patients' features

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要