Article
A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like.
BMC medical genetics - 5 Jun 2017
Chen Zuzhi, Ren Zhixia, Mei Wenli, Ma Qiankun, Shi Yingying, Zhang Yuanxing, Li Shujian, Xiang Li, Zhang Jiewen
Abstract excerpt
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, and without significant cardiac abnormalities. METHODS: Clinical examination and neuroimaging of the captured target region...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.