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

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

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...

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Bibliographic Details
Main Authors: Yan Wang, Yuhan Chen, San Mei Wang, Xin Liu, Ya Nan Gu, Zhichun Feng
Format: Article
Language:English
Published: BMC 2020-11-01
Series:BMC Medical Genetics
Subjects:
Duchenne muscular dystrophy
Prenatal diagnosis
Dystrophin gene
Next-generation sequencing
Mosaicism
Online Access:http://link.springer.com/article/10.1186/s12881-020-01157-0

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