Next-generation sequencing approach to molecular diagnosis of Iranian patients with Duchenne/Becker muscular dystrophy: Several novel variants identified
Tài liệu tham khảo
Verma, 2010, Review of Duchenne muscular dystrophy (DMD) for the pediatricians in the community, Clin. Pediatr. (Phila), 49, 1011, 10.1177/0009922810378738
Li, 2016, Distribution of dystrophin gene deletions in a Chinese population, J. Int. Med. Res., 44, 99, 10.1177/0300060515613223
Zhang, 2019, Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center, BMC Med. Genet., 20, 180, 10.1186/s12881-019-0912-x
Engel, 2004
Bushby, 2010, Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management, Lancet Neurol., 9, 77, 10.1016/S1474-4422(09)70271-6
Wang, 2019, Molecular genetics analysis of 70 Chinese families with muscular dystrophy using multiplex ligation-dependent probe amplification and next-generation sequencing, Front. Pharmacol., 10, 814, 10.3389/fphar.2019.00814
Yiu, 2015, Duchenne muscular dystrophy, J. Paediatr. Child Health, 51, 759, 10.1111/jpc.12868
Yan, 2004, Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD), Hum. Mutat., 23, 203, 10.1002/humu.10307
Mohammed, 2018, Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: the era of personalized medicine, PLoS One, 13, e0197205, 10.1371/journal.pone.0197205
Sironi, 2006, A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast, FASEB J., 10.1096/fj.05-5635fje
Flanigan, 2009, Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort, Hum. Mutat., 30, 1657, 10.1002/humu.21114
Slatko, 2018, Overview of next-generation sequencing technologies, Curr. Protoc. Mol. Biol., 122, 10.1002/cpmb.59
Volk, 2017, The rapid evolution of molecular genetic diagnostics in neuromuscular diseases, Curr. Opin. Neurol., 30, 523, 10.1097/WCO.0000000000000478
Effat, 2000, Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies, Dis. Markers, 16, 125, 10.1155/2000/437372
S Kheradmand Kia, DD Farhud, S Zeinali, AR Mowjoodi, H Najmabadi, F Pourfarzad, P Derakhshandeh. Molecular analysis of iranian patients with Duchenne/Becker muscular dystrophies. Iran. J. Public Health. 32(3):47–53.
Kerr, 2013, Genetic testing for Duchenne/Becker muscular dystrophy in Johannesburg, S. Afr. Med. J., 103, 999, 10.7196/SAMJ.7274
Lai, 2002, Comparative study on deletions of the dystrophin gene in three Asian populations, J. Hum. Genet., 47, 552, 10.1007/s100380200084
Suh, 2017, Multiplex ligation-dependent probe amplification in X-linked recessive muscular dystrophy in Korean subjects, Yonsei Med. J., 58, 613, 10.3349/ymj.2017.58.3.613
Basumatary, 2013, Deletion pattern in the dystrophin gene in Duchenne muscular dystrophy patients in Northeast India, J. Neurosci. Rural Pract., 4, 227, 10.4103/0976-3147.112777
Muntoni, 2003, Dystrophin and mutations: one gene, several proteins, multiple phenotypes, Lancet Neurol., 2, 731, 10.1016/S1474-4422(03)00585-4
Önengüt, 2000, Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians, Ann. Hum. Genet., 64, 33, 10.1046/j.1469-1809.2000.6410033.x
Zamani, 2020, The first comprehensive cohort of the Duchenne muscular dystrophy in Iranian population: mutation Spectrum of 314 patients and identifying two novel nonsense mutations, J. Mol. Neurosci., 70, 1565, 10.1007/s12031-020-01594-9
Kong, 2019, Genetic analysis of 1051 Chinese families with Duchenne/Becker muscular dystrophy, BMC Med. Genet., 20, 139, 10.1186/s12881-019-0873-0
Selvatici, 2021, Ethnicity-related DMD genotype landscapes in European and non-European countries, Neurol. Genetics, 10.1212/NXG.0000000000000536
Toksoy, 2019, Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling, Neuromuscul. Disord., 29, 601, 10.1016/j.nmd.2019.03.012
Tuffery-Giraud, 2009, Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase, Hum. Mutat., 30, 934, 10.1002/humu.20976
Okubo, 2017, Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan, Orphanet. J. Rare Dis., 12, 149, 10.1186/s13023-017-0703-4
Juan-Mateu, 2015, DMD mutations in 576 Dystrophinopathy families: a step forward in genotype-phenotype correlations, PLoS One, 10, 10.1371/journal.pone.0135189
Howard, 1998, Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina, Hum. Mol. Genet., 7, 1385, 10.1093/hmg/7.9.1385
Aartsma-Rus, 2009, Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations, Hum. Mutat., 30, 293, 10.1002/humu.20918
McDonald, 2017, Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebocontrolled, phase 3 trial, Lancet Lond. Engl., 390, 1489, 10.1016/S0140-6736(17)31611-2
