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Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center.

Jingjing ZhangDingyuan MaGang LiuYuguo WangAn LiuLi LiChunyu LuoPing HuZhengfeng Xu
Published in: BMC medical genetics (2019)
This study reported that MLPA and NGS could be used for screening the DMD gene mutations. Furthermore, the stepwise procedure of prenatal diagnosis of DMD gene was shown in our study, which is important for assessing the mutation type of fetuses and providing perinatal care in DMD high-risk families.
Keyphrases
  • duchenne muscular dystrophy
  • muscular dystrophy
  • healthcare
  • pregnant women
  • palliative care
  • genome wide
  • dna methylation
  • pain management
  • copy number
  • gestational age