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

• Main Authors: Zuzhi Chen (Author), Zhixia Ren (Author), Wenli Mei (Author), Qiankun Ma (Author), Yingying Shi (Author), Yuanxing Zhang (Author), Shujian Li (Author), Li Xiang (Author), Jiewen Zhang (Author)
• Format: Book
• Published: BMC, 2017-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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,...