Basiri K, Alizadeh M, Ansari B, Ghasemi M, Kheradmand M, Sedghi M (2023) On genotype-phenotype relationship of dystrophinopathies among Iranian population. Curr J Neurol 22(4):231–237. https://doi.org/10.18502/cjn.v22i4.14528
Article PubMed PubMed Central Google Scholar
Burn J, Povey S, Boyd Y, Munro EA, West L, Harper K et al (1986) Duchenne muscular dystrophy in one of monozygotic twin girls. J Med Genet 23(6):494–500. https://doi.org/10.1136/jmg.23.6.494
Article CAS PubMed PubMed Central Google Scholar
Chen J, Zheng H, Wang Z, Wang J, He F, Zhang C et al (2021) A female carrier of a novel DMD mutation with slightly skewed X-chromosome inactivation shows a suspected case of Becker muscular dystrophy in a Chinese family. Mol Genet Genomics 296(3):541–549. https://doi.org/10.1007/s00438-020-01757-8
Article CAS PubMed Google Scholar
Ishizaki M, Kobayashi M, Adachi K, Matsumura T, Kimura E (2018) Female dystrophinopathy: review of current literature. Neuromuscul Disord 28(7):572–581. https://doi.org/10.1016/j.nmd.2018.04.005
Keegan NP, Wilton SD, Fletcher S (2022) Analysis of pathogenic pseudoexons reveals novel mechanisms driving cryptic splicing. Front Genet 12:806946. https://doi.org/10.3389/fgene.2021.806946
Article CAS PubMed PubMed Central Google Scholar
Komaki R, Hashimoto Y, Mori-Yoshimura M, Oya Y, Takizawa H, Minami N et al (2020) Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by + 1G > A DMD splice-site mutation: a case report. J Hum Genet 65(10):903–909. https://doi.org/10.1038/s10038-020-0788-9
Article CAS PubMed PubMed Central Google Scholar
Lu X, Han C, Mai J, Jiang X, Liao J, Hou Y et al (2021) Novel intronic mutations introduce pseudoexons in DMD that cause muscular dystrophy in patients. Front Genet 12:657040. https://doi.org/10.3389/fgene.2021.657040
Article CAS PubMed PubMed Central Google Scholar
McDonald CM, Henricson EK, Abresch RT, Duong T, Joyce NC, Hu F et al (2018) Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study. Lancet 391(10119):451–461. https://doi.org/10.1016/S0140-6736(17)32160-8
Article CAS PubMed Google Scholar
Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM (1988) An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics (San Diego Calif) 2(1):90. https://doi.org/10.1016/0888-7543(88)90113-9
Muntoni F, Torelli S, Ferlini A (2003) Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2(12):731–740. https://doi.org/10.1016/s1474-4422(03)00585-4
Article CAS PubMed Google Scholar
Okubo M, Noguchi S, Awaya T, Hosokawa M, Tsukui N, Ogawa M et al (2023) RNA-seq analysis, targeted long-read sequencing and in Silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy. Hum Genet 142(1):59–71. https://doi.org/10.1007/s00439-022-02485-2
Article CAS PubMed Google Scholar
Pena SD, Karpati G, Carpenter S, Fraser FC (1987) The clinical consequences of X-chromosome inactivation: Duchenne muscular dystrophy in one of monozygotic twins. J Neurol Sci 79(3):337. https://doi.org/10.1016/0022-510X(87)90240-1
Article CAS PubMed Google Scholar
Segarra-Casas A, Domínguez-González C, Hernández-Laín A, Sanchez-Calvin MT, Camacho A, Rivas E et al (2023) Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events. J Med Genet 60(6):615–619. https://doi.org/10.1136/jmg-2022-108828
Article CAS PubMed Google Scholar
Shvetsova E, Sofronova A, Monajemi R, Gagalova K, Draisma HHM, White SJ et al (2019) Skewed X-inactivation is common in the general female population. Eur J Hum Genet 27(3):455–465. https://doi.org/10.1038/s41431-018-0291-3
Article CAS PubMed Google Scholar
Silva T, Anequini IP, Favero FM, Voos MC, Oliveira A, Telles J et al (2020) Functional performance and muscular strength in symptomatic female carriers of Duchenne muscular dystrophy. Arq Neuro-Psiquiat 78(3):143–148. https://doi.org/10.1590/0004-282X20190168
Takeshima Y, Yagi M, Okizuka Y, Awano H, Zhang Z, Yamauchi Y et al (2010) Mutation spectrum of the dystrophin gene in 442 duchenne/becker muscular dystrophy cases from one Japanese referral center. J Hum Genet 55(6):379–388. https://doi.org/10.1038/jhg.2010.49
Article CAS PubMed Google Scholar
Tan H, Liang D, Wu L (2020) Clinical practice guidelines for Duchenne muscular dystrophy. Chin J Med Genet 37(3):258–262. https://doi.org/10.3760/cma.j.issn.1003-9406.2020.03.006
Tuffery-Giraud S, Saquet C, Chambert S, Echenne B, Marie Cuisset J, Rivier F et al (2004) The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a National referral centre. Neuromuscul Disorders: NMD 14(10):650–658. https://doi.org/10.1016/j.nmd.2004.05.002
Viggiano E, Picillo E, Ergoli M, Cirillo A, Del Gaudio S, Politano L (2017) Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy. J Gene Med 19(4):e2952. https://doi.org/10.1002/jgm.2952
Vulin A, Wein N, Strandjord DM, Johnson EK, Findlay AR, Maiti B et al (2014) The ZZ domain of dystrophin in DMD: making sense of missense mutations. Hum Mutat 35(2):257–264. https://doi.org/10.1002/humu.22479
Article CAS PubMed Google Scholar
Xie Z, Sun C, Liu C, Xie Z, Wei L, Yu J et al (2023) Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants. J Neurol 270(2):925–937. https://doi.org/10.1007/s00415-022-11432-0
Article CAS PubMed Google Scholar
Yan S, Fu F, Zhou H, Huang R, Wang Y, Liao C (2024) Functional analysis of a novel splice site variant in theASAH1 gene. Mol Genet Genom Med 12(1):e2317. https://doi.org/10.1002/mgg3.2317
Yang J, Li SY, Li YQ, Cao JQ, Feng SW, Wang YY et al (2013) MLPA-based genotype–phenotype analysis in 1053 Chinese patients with DMD/BMD. BMC Med Genet 14(1):29. https://doi.org/10.1186/1471-2350-14-29
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