Article
Identification of two rare mutations c.1318G>A and c.6438+2T>G in a Chinese DMD family as genetic markers.
Genes & genomics - 1 Sept 2020
Zhu Yingchuan, Yang Lijun, Ma Tengjiao, Lu Yilu, Tao Dachang, Liu Yunqiang, Ma Yongxin
Abstract excerpt
BACKGROUND: Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder with no effective treatment, which underscores the importance of avoiding the birth of children with DMD by identifying pathogenic mutations and obtaining an accurate prenatal diagnosis. OBJECTIVE: The objective of this study was to analyze the genetic defect of a Chinese family where all male patients have died of DMD. METHODS:...
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