A manifesting female carrier of Duchenne muscular dystrophy: importance of genetics for the dystrophinopathies
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| Published in | Singapore medical journal Vol. 64; no. 1; pp. 81 - 87 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
India
Medknow Publications & Media Pvt Ltd
01.01.2023
Medknow Publications and Media Pvt. Ltd Wolters Kluwer - Medknow Wolters Kluwer – Medknow Publications |
| Edition | 2 |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0037-5675 2737-5935 |
| DOI | 10.4103/singaporemedj.SMJ-2021-356 |
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| Audience | Professional Academic |
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| Author | Ng, Kay Wei Ping Tan, Kong Bing Quak, Zhi Xuan Tan, Sarah Ming Li Lin, Weiqin Chai, Ping |
| AuthorAffiliation | 4 Department of Pathology, National University Hospital, Singapore 5 Department of Cardiology, National University Heart Centre, Singapore 2 Department of Medicine, National University Hospital, Singapore 1 Division of Neurology, Department of Medicine, National University Hospital, Singapore 3 Yong Loo Lin School of Medicine, National University of Singapore |
| AuthorAffiliation_xml | – name: 1 Division of Neurology, Department of Medicine, National University Hospital, Singapore – name: 2 Department of Medicine, National University Hospital, Singapore – name: 3 Yong Loo Lin School of Medicine, National University of Singapore – name: 4 Department of Pathology, National University Hospital, Singapore – name: 5 Department of Cardiology, National University Heart Centre, Singapore |
| Author_xml | – sequence: 1 givenname: Zhi Xuan surname: Quak fullname: Quak, Zhi Xuan – sequence: 2 givenname: Sarah Ming Li surname: Tan fullname: Tan, Sarah Ming Li – sequence: 3 givenname: Kong Bing surname: Tan fullname: Tan, Kong Bing – sequence: 4 givenname: Weiqin surname: Lin fullname: Lin, Weiqin – sequence: 5 givenname: Ping surname: Chai fullname: Chai, Ping – sequence: 6 givenname: Kay Wei Ping surname: Ng fullname: Ng, Kay Wei Ping email: kay_wp_ng@nuhs.edu.sg |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/36722521$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1038/s41436-020-0779-4 10.1111/j.1399-0004.2009.01173.x 10.1016/j.jns.2013.09.036 10.1016/S0140-6736(17)31611-2 10.1002/ana.24555 10.1038/s41572-021-00248-3 10.3390/jpm10030111 10.1002/humu.22758 10.1038/jhg.2016.28 10.1073/pnas.250379497 10.1016/j.nmd.2014.03.008 10.1016/j.nmd.2018.04.005 10.1016/S1474-4422(18)30025-5 10.1016/j.stem.2018.03.022 10.1016/S0735-1097(00)00650-1 10.1146/annurev-pathmechdis-012418-012945 10.1007/s00415-011-5979-z 10.1358/dot.2019.55.10.3045038 10.1177/0883073810371004 10.1212/NXG.0000000000000529 10.1161/CIRCULATIONAHA.114.015151 10.1212/WNL.0000000000009233 10.1016/j.jcmg.2017.08.005 10.1136/jmedgenet-2015-103387 10.1016/S1474-4422(18)30024-3 10.3390/diagnostics11101910 10.1126/scisignal.2002829 10.1038/jhg.2016.152 |
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| References_xml | – volume: 22 start-page: 1156 year: 2020 ident: R21-20240829 article-title: X-linked diseases:Susceptible females publication-title: Genet Med doi: 10.1038/s41436-020-0779-4 – volume: 75 start-page: 465 year: 2009 ident: R10-20240829 article-title: Recurrence risk due to germ line mosaicism:Duchenne and Becker muscular dystrophy publication-title: Clin Genet doi: 10.1111/j.1399-0004.2009.01173.x – volume: 336 start-page: 36 year: 2014 ident: R19-20240829 article-title: Symptomatic female carriers of Duchenne muscular dystrophy (DMD):Genetic and clinical characterization publication-title: J Neurol Sci doi: 10.1016/j.jns.2013.09.036 – volume: 390 start-page: 1489 year: 2017 ident: R26-20240829 article-title: Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD):A multicentre, randomised, double-blind, placebo-controlled, phase 3 trial publication-title: Lancet doi: 10.1016/S0140-6736(17)31611-2 – volume: 79 start-page: 257 year: 2016 ident: R27-20240829 article-title: Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy publication-title: Ann Neurol doi: 10.1002/ana.24555 – volume: 7 start-page: 13 year: 2021 ident: R1-20240829 article-title: Duchenne muscular dystrophy publication-title: Nat Rev Dis Primers doi: 10.1038/s41572-021-00248-3 – volume: 6 start-page: 188 year: 2014 ident: R14-20240829 article-title: Skeletal muscle homeostasis in duchenne muscular dystrophy:Modulating autophagy as a promising therapeutic strategy publication-title: Front Aging Neurosci – volume: 10 start-page: 111 year: 2020 ident: R23-20240829 article-title: Advances in genetic characterization and genotype–phenotype correlation of Duchenne and becker muscular dystrophy in the personalized medicine era publication-title: J Pers Med doi: 10.3390/jpm10030111 – volume: 36 start-page: 395 year: 2015 ident: R9-20240829 article-title: The TREAT-NMD DMD global database:Analysis of more than 7,000 Duchenne muscular dystrophy mutations publication-title: Hum Mutat doi: 10.1002/humu.22758 – volume: 61 start-page: 663 year: 2016 ident: R16-20240829 article-title: Deletion of exons 3 - 9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy publication-title: J Hum Genet doi: 10.1038/jhg.2016.28 – volume: 97 start-page: 13818 year: 2000 ident: R11-20240829 article-title: Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy publication-title: Proc Natl Acad Sci doi: 10.1073/pnas.250379497 – volume: 24 start-page: 482 year: 2014 ident: R5-20240829 article-title: A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy publication-title: Neuromuscul Disord doi: 10.1016/j.nmd.2014.03.008 – volume: 28 start-page: 572 year: 2018 ident: R20-20240829 article-title: Female dystrophinopathy:Review of current literature publication-title: Neuromuscul Disord doi: 10.1016/j.nmd.2018.04.005 – volume: 17 start-page: 347 year: 2018 ident: R4-20240829 article-title: Diagnosis and management of Duchenne muscular dystrophy, part 2:Respiratory, cardiac, bone health, and orthopaedic management publication-title: Lancet Neurol doi: 10.1016/S1474-4422(18)30025-5 – volume: 22 start-page: 755 year: 2018 ident: R13-20240829 article-title: The Dystrophin glycoprotein complex regulates the epigenetic activation of muscle stem cell commitment publication-title: Cell Stem Cell doi: 10.1016/j.stem.2018.03.022 – volume: 35 start-page: 1760 year: 2000 ident: R18-20240829 article-title: Prevalence and characteristics of dystrophin defects in adult male patients with dilated cardiomyopathy publication-title: J Am Coll Cardiol doi: 10.1016/S0735-1097(00)00650-1 – volume: 14 start-page: 105 year: 2019 ident: R2-20240829 article-title: Pathological issues in dystrophinopathy in the age of genetic therapies publication-title: Annu Rev Pathol doi: 10.1146/annurev-pathmechdis-012418-012945 – volume: 258 start-page: 1610 year: 2011 ident: R6-20240829 article-title: Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up publication-title: J Neurol doi: 10.1007/s00415-011-5979-z – volume: 55 start-page: 627 year: 2019 ident: R29-20240829 article-title: Viltolarsen for the treatment of Duchenne muscular dystrophy publication-title: Drugs Today (Barc) doi: 10.1358/dot.2019.55.10.3045038 – volume: 25 start-page: 1116 year: 2010 ident: R24-20240829 article-title: Change in natural history of Duchenne muscular dystrophy with long-term corticosteroid treatment:Implications for management publication-title: J Child Neurol doi: 10.1177/0883073810371004 – volume: 7 start-page: e529 year: 2021 ident: R8-20240829 article-title: Molecular diagnosis in 100% of dystrophinopathies publication-title: Neurol Genet doi: 10.1212/NXG.0000000000000529 – volume: 131 start-page: 1590 year: 2015 ident: R7-20240829 article-title: Contemporary cardiac issues in Duchenne muscular dystrophy publication-title: Circulation doi: 10.1161/CIRCULATIONAHA.114.015151 – volume: 94 start-page: e2270 year: 2020 ident: R28-20240829 article-title: Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy publication-title: Neurology doi: 10.1212/WNL.0000000000009233 – volume: 10 start-page: 1180 year: 2017 ident: R3-20240829 article-title: Role of cardiac magnetic resonance in the diagnosis and prognosis of nonischemic cardiomyopathy publication-title: JACC Cardiovasc Imaging doi: 10.1016/j.jcmg.2017.08.005 – volume: 53 start-page: 145 year: 2016 ident: R17-20240829 article-title: The importance of genetic diagnosis for Duchenne muscular dystrophy publication-title: J Med Genet doi: 10.1136/jmedgenet-2015-103387 – volume: 17 start-page: 251 year: 2018 ident: R25-20240829 article-title: Diagnosis and management of Duchenne muscular dystrophy, part 1:Diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management publication-title: Lancet Neurol doi: 10.1016/S1474-4422(18)30024-3 – volume: 11 start-page: 1910 year: 2021 ident: R22-20240829 article-title: Comprehensive molecular analysis of DMD gene increases the diagnostic value of dystrophinopathies:A pilot study in a Southern Italy cohort of patients publication-title: Diagnostics (Basel) doi: 10.3390/diagnostics11101910 – volume: 5 start-page: ra56 year: 2012 ident: R12-20240829 article-title: Microtubules underlie dysfunction in Duchenne muscular dystrophy publication-title: Sci Signal doi: 10.1126/scisignal.2002829 – volume: 62 start-page: 459 year: 2017 ident: R15-20240829 article-title: Comparison of the phenotypes of patients harboring in-frame deletions starting at exon 45 in the Duchenne muscular dystrophy gene indicates potential for the development of exon skipping therapy publication-title: J Hum Genet doi: 10.1038/jhg.2016.152 |
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| SubjectTerms | Duchenne muscular dystrophy Dystrophin Female Gene expression Genes Genetic aspects Humans Medical Education [CME Article] Medical Education: CME Muscular Dystrophy, Duchenne - genetics Utrophin Valsartan |
| Title | A manifesting female carrier of Duchenne muscular dystrophy: importance of genetics for the dystrophinopathies |
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