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

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 c...

Source: BMC Medical Genetics - November 11, 2020 Category: Genetics & Stem Cells Authors: Yan Wang, Yuhan Chen, San Mei Wang, Xin Liu, Ya Nan Gu and Zhichun Feng Tags: Case report Source Type: research