Mosaicism in carrier of Duchenne muscular dystrophy mutation - Implication for prenatal diagnosis

• Main Authors: Linh Thuy Dinh (Author), Duc Hinh Nguyen (Author), Long Hoang Luong (Author), Phuong Thi Le (Author), Tuan Pham Le-Anh (Author), Dat Quoc Tran (Author), Thinh Huy Tran (Author), The-Hung Bui (Author), Thanh Van Ta (Author), Van Khanh Tran (Author)
• Format: Book
• Published: Elsevier, 2018-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: Duchenne muscular dystrophy (DMD) is a severe disorder caused by mutation in the X-linked dystrophin gene, therefor carrier testing is required for all female family members. However, there are cases mutation analysis cannot detect any mutation due to a phenomenon called mosaicism. The ca...