ArticleCirculation. Genomic and precision medicine2018
Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions.
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Article in Circulation. Genomic and precision medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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29citing papers in PubMed, 1 pooled it
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- Predictors of cardiac disease in duchenne muscular dystrophy: a systematic review and evidence grading.Orphanet journal of rare diseases · 2024Pooled it
- Prevalence and Characteristics of Cardiac Arrhythmia in Duchenne Muscular Dystrophy: A Retrospective, Single-Center Holter Electrocardiographic Monitoring Study.European journal of neurology · 2026Article
- Dystrophins DP71 and DP427 determine cell viability during proliferation and myofibre differentiation.Cell death & disease · 2026Article
- Dystrophin Loss in Engineered Heart Tissues Recapitulates Clinically Relevant Aspects of Dystrophic Cardiomyopathy.Journal of biomechanical engineering · 2026Article
- Behavioral improvement in dystrophicMolecular therapy. Nucleic acids · 2025Article
- Genetic strategies for therapy of Duchenne muscular dystrophy.Molecular therapy. Nucleic acids · 2025Review
- Non-invasive pressure-volume loop derived temporal elastance, contractility, and efficiency indices for assessing Duchenne muscular dystrophy patients.Heart and vessels · 2025Article
- Molecular genetics of dystrophinopathy.Journal of human genetics · 2025Review
- Early Cardiac Dysfunction in Duchenne Muscular Dystrophy: A Case Report and Literature Update.International journal of molecular sciences · 2025Review
- Long-Term Survival and Myocardial Function Following Systemic Delivery of Delandistrogene Moxeparvovec in DMDHuman gene therapy · 2024Article
- Clinical Utility of Synthesized 18-Lead Electrocardiography.Sensors (Basel, Switzerland) · 2024Review
- Review
- Ivabradine ameliorates cardiomyopathy progression in a Duchenne muscular dystrophy model rat.Experimental animals · 2024Article
- The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.Journal of neuromuscular diseases · 2024Article
- Efficacy of exon-skipping therapy for DMD cardiomyopathy with mutations in actin binding domain 1.Molecular therapy. Nucleic acids · 2023Article
- Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.Annals of clinical and translational neurology · 2023Article
- Higher Prevalence of Nonsense PathogenicBrain sciences · 2023Article
- Development of Essential Oil Delivery Systems by 'Click Chemistry' Methods: Possible Ways to Manage Duchenne Muscular Dystrophy.Materials (Basel, Switzerland) · 2023Review
- Mutation spectrum analysis ofF1000Research · 2022Article
- The multifaceted view of heart problem in Duchenne muscular dystrophy.Cellular and molecular life sciences : CMLS · 2021Review
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Authors and funding
13 authors at 3 institutions in 2 countries.
Tetsushi YamamotoFrom the Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan (T.Y., S.K., I.S., T.I., N.H., J.S.); Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan (H.A., M. Matsumoto, M.N., K.I.); Department of Pathology, Medical School of Nankai University, Tianjin, China (Z.Z.); Department of Physical Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan (Z.Z., M. Matsuo); and Department of Clinical Epidemiology, Hyogo College of Medicine, Nishinomiya, Japan (M.E.-S.).
Hiroyuki AwanoFrom the Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan (T.Y., S.K., I.S., T.I., N.H., J.S.); Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan (H.A., M. Matsumoto, M.N., K.I.); Department of Pathology, Medical School of Nankai University, Tianjin, China (Z.Z.); Department of Physical Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan (Z.Z., M. Matsuo); and Department of Clinical Epidemiology, Hyogo College of Medicine, Nishinomiya, Japan (M.E.-S.).
Zhujun ZhangFrom the Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan (T.Y., S.K., I.S., T.I., N.H., J.S.); Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan (H.A., M. Matsumoto, M.N., K.I.); Department of Pathology, Medical School of Nankai University, Tianjin, China (Z.Z.); Department of Physical Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan (Z.Z., M. Matsuo); and Department of Clinical Epidemiology, Hyogo College of Medicine, Nishinomiya, Japan (M.E.-S.).
Mio SakumaFrom the Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan (T.Y., S.K., I.S., T.I., N.H., J.S.); Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan (H.A., M. Matsumoto, M.N., K.I.); Department of Pathology, Medical School of Nankai University, Tianjin, China (Z.Z.); Department of Physical Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan (Z.Z., M. Matsuo); and Department of Clinical Epidemiology, Hyogo College of Medicine, Nishinomiya, Japan (M.E.-S.).
Shoko KitaakiFrom the Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan (T.Y., S.K., I.S., T.I., N.H., J.S.); Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan (H.A., M. Matsumoto, M.N., K.I.); Department of Pathology, Medical School of Nankai University, Tianjin, China (Z.Z.); Department of Physical Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan (Z.Z., M. Matsuo); and Department of Clinical Epidemiology, Hyogo College of Medicine, Nishinomiya, Japan (M.E.-S.).
Masaaki MatsumotoFrom the Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan (T.Y., S.K., I.S., T.I., N.H., J.S.); Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan (H.A., M. Matsumoto, M.N., K.I.); Department of Pathology, Medical School of Nankai University, Tianjin, China (Z.Z.); Department of Physical Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan (Z.Z., M. Matsuo); and Department of Clinical Epidemiology, Hyogo College of Medicine, Nishinomiya, Japan (M.E.-S.).
Masashi NagaiFrom the Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan (T.Y., S.K., I.S., T.I., N.H., J.S.); Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan (H.A., M. Matsumoto, M.N., K.I.); Department of Pathology, Medical School of Nankai University, Tianjin, China (Z.Z.); Department of Physical Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan (Z.Z., M. Matsuo); and Department of Clinical Epidemiology, Hyogo College of Medicine, Nishinomiya, Japan (M.E.-S.).
Itsuko SatoFrom the Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan (T.Y., S.K., I.S., T.I., N.H., J.S.); Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan (H.A., M. Matsumoto, M.N., K.I.); Department of Pathology, Medical School of Nankai University, Tianjin, China (Z.Z.); Department of Physical Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan (Z.Z., M. Matsuo); and Department of Clinical Epidemiology, Hyogo College of Medicine, Nishinomiya, Japan (M.E.-S.).
Takamitsu ImanishiFrom the Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan (T.Y., S.K., I.S., T.I., N.H., J.S.); Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan (H.A., M. Matsumoto, M.N., K.I.); Department of Pathology, Medical School of Nankai University, Tianjin, China (Z.Z.); Department of Physical Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan (Z.Z., M. Matsuo); and Department of Clinical Epidemiology, Hyogo College of Medicine, Nishinomiya, Japan (M.E.-S.).
Nobuhide HayashiFrom the Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan (T.Y., S.K., I.S., T.I., N.H., J.S.); Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan (H.A., M. Matsumoto, M.N., K.I.); Department of Pathology, Medical School of Nankai University, Tianjin, China (Z.Z.); Department of Physical Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan (Z.Z., M. Matsuo); and Department of Clinical Epidemiology, Hyogo College of Medicine, Nishinomiya, Japan (M.E.-S.).
Masafumi MatsuoFrom the Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan (T.Y., S.K., I.S., T.I., N.H., J.S.); Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan (H.A., M. Matsumoto, M.N., K.I.); Department of Pathology, Medical School of Nankai University, Tianjin, China (Z.Z.); Department of Physical Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan (Z.Z., M. Matsuo); and Department of Clinical Epidemiology, Hyogo College of Medicine, Nishinomiya, Japan (M.E.-S.). mmatsuo@reha.kobegakuin.ac.jp.
Kazumoto IijimaFrom the Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan (T.Y., S.K., I.S., T.I., N.H., J.S.); Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan (H.A., M. Matsumoto, M.N., K.I.); Department of Pathology, Medical School of Nankai University, Tianjin, China (Z.Z.); Department of Physical Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan (Z.Z., M. Matsuo); and Department of Clinical Epidemiology, Hyogo College of Medicine, Nishinomiya, Japan (M.E.-S.).
Jun SaegusaFrom the Department of Clinical Laboratory, Kobe University Hospital, Kobe, Japan (T.Y., S.K., I.S., T.I., N.H., J.S.); Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan (H.A., M. Matsumoto, M.N., K.I.); Department of Pathology, Medical School of Nankai University, Tianjin, China (Z.Z.); Department of Physical Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan (Z.Z., M. Matsuo); and Department of Clinical Epidemiology, Hyogo College of Medicine, Nishinomiya, Japan (M.E.-S.).
Kobe Gakuin University · JPKobe University · JPNankai University · CN
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDuchenne muscular dystrophy (DMD), the most common inherited muscular disease in childhood, is caused by dystrophin deficiency because of mutations in the METHODS AND
resultsThe results of 1109 echocardiograms obtained from 181 Japanese DMD patients with confirmed mutations in the
conclusionsLeft ventricular ejection fraction in DMD declined stepwise with age. Cardiac dysfunction was less frequent in Dp116-deficient than other patients with DMD. Dp116 transcript was identified in human cardiac muscle for the first time. These results indicate that Dp116 is associated with cardiac involvement in DMD.
Indexed as
AdolescentAdultChildChild, PreschoolDisease-Free SurvivalDystrophinHumansKaplan-Meier EstimateMuscular Dystrophy, DuchenneOpen Reading FramesPolymorphism, GeneticPromoter Regions, GeneticProtein IsoformsRetrospective StudiesVentricular Function, LeftYoung AdultDystrophinProtein Isoformsdystrophinechocardiographyexonsintronsmutation
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