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Updated: Aug 8, 2026

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
Published on: May 7, 2020
Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular
Xiafei Dai1,2, Chenqing Zheng3, Xuepin Chen2,4
11School of Medicine, University of Electronic Science and Technology of China, 610072 Chengdu, Sichuan China.
Abstract:
Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked recessive disease characterized by the clinical triad of early childhood joint contractures, progressive weakness in muscles and cardiac involvement and can result in sudden death. Targeted next-generation sequencing was performed for a Chinese patient with EDMD and the previously reported mutation [NM_000117.2: c.251_255del (p.Leu84Profs*7)] in exon 3 of the emerin gene (EMD) was identified.

