Becker Muscular Dystrophy (BMD)
Duchenne and Becker muscular dystrophy in adolescents: current perspectives
... “Duchenne muscular dystrophy OR Becker muscular dystrophy” AND “adolescence OR ado- lescent” OR terms appropriate to each topical area of interest and restricting age to ...
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A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3
... Recent studies show that the incidence of autistic traits in both Duchenne (DMD) and Becker muscular dystrophy (BMD) cohorts is higher than observed in the general population. In the largest study, ...
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A comprehensive database of Duchenne and Becker muscular dystrophy patients (0–18 years old) in East China
... Duchenne muscular dystrophy (DMD) and its milder form, Becker muscular dystrophy (BMD) are X-linked recessive muscular dystrophy caused by mutations in the dystrophin gene ...
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Adherence to American Academy of Pediatrics Recommendations for Cardiac Care Among Female Carriers of Duchenne and Becker Muscular Dystrophy
... RESULTS. The respondents included 833 Duchenne/Becker muscular dystrophy carri- ers, 376 noncarriers, and 192 women with unknown status. Carriers were more likely than noncarriers and women in the ...
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Cardiovascular Health Supervision for Individuals Affected by Duchenne or Becker Muscular Dystrophy
... Duchenne muscular dystrophy is the most common and severe form of the childhood muscular ...failure. Becker muscular dystrophy is less common and has a milder clinical course but ...
7
Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy
... Objectives Muscular dystrophies are a clinically and genetically heterogeneous group of inherited myogenic ...duchenne muscular dystrophy ...from muscular dystrophy patients including ...
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Improved diagnosis of Duchenne/Becker muscular dystrophy
... The new molecular tests for DMD/BMD fall into two groups: those that examine dystrophin protein western blotting and immunofluorescence and those that study the gene Southern blotting wi[r] ...
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Clinical genetic aspects of Duchenne and Becker muscular dystrophy in the Netherlands
... A mutation in one of mitotic divisions of the zygote can give rise to somatic mosaicism in the patient. In Chapter 2.2, we have presented a 30-year old ambulatory patient with somatic mosaicism. The first indication that ...
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Cardiac involvement in patients with Becker muscular dystrophy: new diagnostic and pathophysiological insights by a CMR approach
... Myocardial involvement with the development of dilated cardiomyopathy (DCM) has been described in up to 72% of BMD patients, mainly based on echocardiographic studies [4]. It is believed that dystrophin protein dysfunc- ...
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Serum Transaminase Levels in Boys With Duchenne and Becker Muscular Dystrophy
... Blood-testing results revealed persistent high serum transaminase levels in 6 pa- tients. A dystrophinopathy was eventu- ally diagnosed in all of these patients (1 DMD, 5 BMD); however, the delay be- tween the ...
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Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)
... TREAT-NMD is an excellent network in the field of neuromuscular disorders and has been leading inter- national registry collaboration for many diseases including DMD, spinal muscular atrophy, myotonic ...
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Mitochondrial Dysfunction in Duchenne Muscular Dystrophy
... Several types of MD exist which vary in both severity and prevalence of the disease. Duchenne (DMD) and Becker Muscular Dystrophy (BMD) are two of the most common and severe forms of MD [1]. The ...
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Community-engaged approaches to explore research priorities in Duchenne and Becker muscular dystrophy
... Acknowledgments The authors appreciate the leadership and commitment of the Parent Project Muscular Dystrophy oversight committee: Pat Furlong, Brian Denger, Sharon Hesterlee, and Kathi Kinnett. We are ...
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Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers
... NT-proBNP was found to be significantly correlated with depressed LV function on echocardiography in a cohort of 28 wheelchair dependent DMD patients who were on a (non)invasive mechanical ventilator [11]. In contrast, ...
7
Immunohistochemical analysis of dystrophin associated proteins in Becker/Duchenne muscular dystrophy with huge in frame deletions in the NH2 terminal and rod domains of dystrophin
... Here, we report a mild reduction of the DAPs in the unique Becker muscular dystrophy patients with huge deletions in the rod domain of dystrophin and a moderate reduction of the DAPs in [r] ...
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Brain MR in Fukuyama congenital muscular dystrophy
... PURPOSE: To determine the MR characteristics of brain abnormalities in Fukuyama congenital muscular dystrophy (FCMD). METHODS: We reviewed 30 MR examinations of 21 patients with FCMD to assess cerebral and ...
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The superhealing MRL background improves muscular dystrophy
... Mouse models of dystrophin or sarcoglycan mutations recapitulate the basic pathological defects seen in human forms of these genetic disorders. Mice lacking γ- sarcoglycan were engineered by removing the first cod- ing ...
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Antioxidants Reduce Muscular Dystrophy in the dy2J/dy2J Mouse Model of Laminin α2 Chain-deficient Muscular Dystrophy
... such as fibrosis and grip strength were not affected. Thus, NAC-treatment had more profound effects than vitamin E. Vitamin E supplementation has also been evaluated in dystrophin-deficient mice. A two-week ...
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Biomarkers of Duchenne muscular dystrophy: current findings
... Duchenne muscular dystrophy, this endeavor has created a wealth of knowledge that, if effectively exploited, will benefit affected individuals, with respect to health care, therapy, improved quality of life ...
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Vascular-targeted therapies for Duchenne muscular dystrophy
... develop muscular dystrophy, yet myocardial specific nNOS expression prevents cardiomy- opathy in mdx mice by increasing the capacity to benefit from NO-mediated protection ...
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