Ontology highlight
ABSTRACT:
SUBMITTER: Chen Z
PROVIDER: S-EPMC5460548 | biostudies-other | 2017 Jun
REPOSITORIES: biostudies-other
BMC medical genetics 20170605 1
<h4>Background</h4>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.<h4>Methods</h4>Clinical examination and neuroimaging of the captured target region and high-throughput sequencing were performed in a family of four gene ...[more]