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

Autor: Van Khanh Tran, Tuan Pham Le-Anh, Long Hoang Luong, Dat Quoc Tran, Thanh Van Ta, Thinh Huy Tran, The-Hung Bui, Linh Thuy Dinh, Phuong Thi Le, Duc Hinh Nguyen

Publikováno v: Taiwanese Journal of Obstetrics & Gynecology, Vol 57, Iss 6, Pp 878-880 (2018)

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 mut

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::354b776d88cdd0ef45f9baa7598e473c
https://doi.org/10.1016/j.tjog.2018.10.019

AB032. Mutation spectrum in the dystrophin gene disclosed by multiplex ligation-dependent probe amplification in 181 Vietnamese Duchenne/Becker muscular dystrophy patients

Autor: Tran, Van Khanh, Do, Ngoc Hai, Tran, Thinh Huy, Ta, Minh Hieu, Tuan-Pham, Le Anh, Chi, Dung Vu, Khanh, Nguyen Ngoc, Ta, Van Thanh, Matsuo, Masafumi

Duchenne/Becker muscular dystrophy (DMD/BMD) the most common X-linked muscular dystrophy is caused by mutation in dystrophin gene. Deletion and duplication in the dystrophin gene account for 60-70% of mutation. Multiplex ligation-dependent probe ampl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmc_________::0f7298006b9a6619580d06da5d381aeb
https://europepmc.org/articles/PMC4563477/

Validation of ambiguous MLPA results by targeted next-generation sequencing discloses a nonsense mutation in the DMD gene.

Autor: Niba ET; Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University, 518 Arise, Ikawadani, Nishi, Kobe, 651-2180, Japan. Electronic address: emma@reha.kobegakuin.ac.jp., Tran VK; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam. Electronic address: tranvankhanh@hmu.edu.vn., Tuan-Pham le A; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam. Electronic address: tuanpla@hus.edu.vn., Vu DC; Department of Medical Genetics, Metabolism & Endocrinology and Clinical Research's Division in Research Institute for Child Health Vietnam, National Hospital of Pediatrics, Hanoi, Vietnam. Electronic address: dungvu@nhp.org.vn., Nguyen NK; Department of Medical Genetics, Metabolism & Endocrinology and Clinical Research's Division in Research Institute for Child Health Vietnam, National Hospital of Pediatrics, Hanoi, Vietnam. Electronic address: khanhnn@nhp.org.vn., Ta VT; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam. Electronic address: tathanhvan@hmu.edu.vn., Tran TH; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam. Electronic address: tranhuythinh@hmu.edu.vn., Lee T; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe, 650-0017, Japan. Electronic address: leetomo@med.kobe-u.ac.jp., Takeshima Y; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunokicho, Chuo, Kobe, 650-0017, Japan. Electronic address: takeshima@med.kobe-u.ac.jp., Matsuo M; Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University, 518 Arise, Ikawadani, Nishi, Kobe, 651-2180, Japan. Electronic address: mmatsuo@reha.kobegakuin.ac.jp.

Publikováno v: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2014 Sep 25; Vol. 436, pp. 155-9. Date of Electronic Publication: 2014 Jun 02.