A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like

A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like

Abstract Background In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery–Dreifuss muscular dystrophy-like, which clinically manifests as muscle weakness, muscle atrophy, joint contracture,...

Full description

Bibliographic Details
Main Authors: Zuzhi Chen, Zhixia Ren, Wenli Mei, Qiankun Ma, Yingying Shi, Yuanxing Zhang, Shujian Li, Li Xiang, Jiewen Zhang
Format: Article
Language:English
Published: BMC 2017-06-01
Series:BMC Medical Genetics
Subjects:
Emery-Dreifuss muscular dystrophy
SYNE1 gene
Gly2304Arg mutation
Clinical manifestations
Online Access:http://link.springer.com/article/10.1186/s12881-017-0424-5

Internet

http://link.springer.com/article/10.1186/s12881-017-0424-5

Similar Items