Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy

Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy

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 Chi...

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Veröffentlicht in:Human genome variation 2019-09, Vol.6 (1), p.42-42, Article 42
Hauptverfasser: Dai, Xiafei, Zheng, Chenqing, Chen, Xuepin, Tang, Yibin, Zhang, Hongmei, Yan, Chao, Ma, Huihui, Li, Xiaoping
Format: Artikel
Sprache:eng
Schlagworte:
631/208/726/649/2219
692/699/75
Biomedical and Life Sciences
Biomedicine
Data Report
Gene Expression
Gene Function
Gene Therapy
Human Genetics
Molecular Medicine
Muscular dystrophy
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Zusammenfassung: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.
ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-019-0072-8