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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Detalles Bibliográficos
Autores principales: Dai, Xiafei, Zheng, Chenqing, Chen, Xuepin, Tang, Yibin, Zhang, Hongmei, Yan, Chao, Ma, Huihui, Li, Xiaoping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804839/
https://www.ncbi.nlm.nih.gov/pubmed/31645980
http://dx.doi.org/10.1038/s41439-019-0072-8

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