A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like - Chen, Zuzhi; Ren, Zhixia; Mei, Wenli; Ma, Qiankun; Shi, Yingying; Zhang, Yuanxing; Li, Shujian; Xiang, Li; Zhang, Jiewen (BMC medical genetics, 2017)
Keywords: Adult; Amino Acid Sequence; Ankle; Arginine; Asian Continental Ancestry Group - genetics; Ataxia; Atrophy; Bioinformatics; Biomedical and Life Sciences; Biomedicine; China; Clinical manifestations; Clinical-Molecular Genetics and Cytogenetics; Cytogenetics; Deoxyribonucleic acid; DNA; Emery-Dreifuss muscular dystrophy; Exons; Female; Gene Function; Gene mutations; Genes; Genetic aspects; Gly2304Arg mutation; Glycine; Health aspects; Heart diseases; Heterozygote; High-Throughput Nucleotide Sequencing; Human Genetics; Humans; Magnetic resonance imaging; Male; Middle Aged; Missense mutation; Muscular dystrophy; Muscular Dystrophy, Emery-Dreifuss - diagnosis; Muscular Dystrophy, Emery-Dreifuss - genetics; Mutation; Mutation, Missense; Nerve Tissue Proteins - genetics; Neuroimaging; Next-generation sequencing; Nuclear Proteins - genetics; Pedigree; Phenotype; Point Mutation; Protein Conformation; Research Article; Sequence Analysis, DNA; SYNE1 gene; Young Adult; United States--US; Clinical manifestations; gene; Emery-Dreifuss muscular dystrophy; Gly2304Arg mutation; SYNE1 gene