Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report

• Main Authors: Yan Wang (Author), Yuhan Chen (Author), San Mei Wang (Author), Xin Liu (Author), Ya Nan Gu (Author), Zhichun Feng (Author)
• פורמט: ספר
• יצא לאור: BMC, 2020-11-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstracts Background Duchenne muscular dystrophies (DMDs) are X-linked recessive neuromuscular disorders with malfunction or absence of the Dystrophin protein. Precise genetic diagnosis is critical for proper planning of patient care and treatment. In this study, we described a Chinese family with m...