Homo sapiens isolate:syne1 Genome sequencing. Homo sapiens isolate:syne1

we reported a novel mutation in exon 46 on codon 2304 (G2304R) of the SYNE1 gene in a Chinese family (proband, mother, and sister) with EDMD-like features (affected with progressive muscular dystrophy manifested by joint contracture without cardiac involvement), and 100 healthy individuals did not show such mutation.