Results 271 to 280 of about 71,938 (313)
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Neuroblastoma in Duchenne Muscular Dystrophy
Pediatrics, 1986To the Editor.— In reporting two patients with neuroblastoma and cystic fibrosis, Moss et al1 noted that "reports of cystic fibrosis and other genetic abnormalities in individual patients are usually regarded as chance associations." We encountered an analogous situation in caring for a boy in whom stage III neuroblastoma ...
K M, Johnston +3 more
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2004
Duchenne muscular dystrophy (DMD) is a common inherited disease with a worldwide incidence of 1 in 3,500 male births. Recent molecular study on the DMD gene identified a 14-kb mRNA encoded by 79 exons distributed over 2.5 million bp of the X-chromosome. The protein named dystrophin contains 3,685 amino acids. Most of the genetic events (mutations) that
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Duchenne muscular dystrophy (DMD) is a common inherited disease with a worldwide incidence of 1 in 3,500 male births. Recent molecular study on the DMD gene identified a 14-kb mRNA encoded by 79 exons distributed over 2.5 million bp of the X-chromosome. The protein named dystrophin contains 3,685 amino acids. Most of the genetic events (mutations) that
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Human Genetics, 1977
By a general survey in the hopitals of northeast Italy, Duchenne cases have been located and identified over a 20-year period. In a more restricted area screening for Duchenne carriers has been carried out in affected families. This procedure made possible an exact estimate of the incidence rate, prevalence rate, and mutation rate in a large sample of ...
Danieli GA +3 more
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By a general survey in the hopitals of northeast Italy, Duchenne cases have been located and identified over a 20-year period. In a more restricted area screening for Duchenne carriers has been carried out in affected families. This procedure made possible an exact estimate of the incidence rate, prevalence rate, and mutation rate in a large sample of ...
Danieli GA +3 more
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On the Pathogenesis of Duchenne Muscular Dystrophy*
Developmental Medicine & Child Neurology, 1975SUMMARYThe relative merits of the three presently most active hypotheses (vascular, neurogenic, and myogenic) concerning the pathogenesis of Duchenne muscular dystrophy are analysed and discussed and the literature is comprehensively reviewed.ZUSAMMENFASSUNGZur Pathogenese der Duchenne'schen MuskeldystrophieDie entsprechenden Hauptpunkte der drei ...
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Cardioprotection for Duchenne’s muscular dystrophy
American Heart Journal, 1999To explore the use of neuroendocrine monitoring for more timely diagnosis of dilated cardiomyopathy (DCM) in Duchenne's muscular dystrophy (DMD) and to determine the effects of angiotensin-converting enzyme inhibitors (ACEI) and beta-blockers on neuroendocrine levels, left ventricular diastolic diameter (LVDd), ejection fraction, and mortality rate on ...
Y, Ishikawa, J R, Bach, R, Minami
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Duchenne and Becker Muscular Dystrophies
Neurologic Clinics, 2014The dystrophinopathies Duchenne and Becker muscular dystrophies (DMD and BMD) represent the most common inherited disorders of muscle. Improvements in cardiac care, attention to respiratory function, and judicious use of spinal correction surgery have led to increased survival in the DMD population.
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Treatment of Duchenne's Muscular Dystrophy
JAMA: The Journal of the American Medical Association, 1982To the Editor.— The recent article by Crisp and colleagues (1982;247:478) and the accompanying editorial by Shelborne (1982;247:496), both of which emphasize the value of early diagnosis in Duchenne's muscular dystrophy (DMD), are highly commendable and may help to prevent needless tragedy and suffering.
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Cardiomyopathy of Duchenne muscular dystrophy
Pediatric Cardiology, 1988A total of 18 male patients with Duchenne muscular dystrophy (DMD), aged 8-29 years (mean, 15.7 years), were prospectively studied to assess the cardiomyopathy associated with DMD, using clinical parameters and noninvasive cardiovascular investigations: electrocardiogram (ECG), Holter monitoring, and echocardiography.
L, D'Orsogna, J P, O'Shea, G, Miller
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Reinnervation in duchenne muscular dystrophy
Muscle & Nerve, 1983AbstractMotor neuron abnormalities have been implicated in the pathogenesis of Duchenne muscular dystrophy. Evidence concerning the effect of injury on motor neurons of human Duchenne muscular dystrophy (DMD) is lacking. We report a DMD patient having, in addition, an obstetric paresis on his left arm.
A, Dubrovsky, A L, Taratuto
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Mutations in Duchenne Muscular Dystrophy
Archives of Neurology, 1988The nature of the mutations in Duchenne muscular dystrophy (DMD) has implications not only for genetic science but for prevention and patient care. Everyone agrees on this. The crux of the controversy is whether the mutation rate is equal among males and females.
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