Results 71 to 80 of about 2,668 (97)
Some of the next articles are maybe not open access.
Screening for Duchenne muscular dystrophy
Pediatrics, 1977Recently, it has been suggested that all newborn male infants be screened for Duchenne muscular dystrophy (DMD) by measuring creatine phosphokinase (CPK) levels.1,2 One of the main arguments for this approach is that mothers of affected infants who have no known family history of DMD can be counseled.
A D, Roses, G A, Nicholson, C R, Roe
openaire +2 more sources
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
openaire +2 more sources
Echocardiography in duchenne muscular dystrophy
Muscle & Nerve, 1980AbstractThe cardiac function of 36 males with Duchenne muscular dystrophy was evaluated by echocardiography, and the results were compared with the results of other tests of cardiac involvement, including serum creatine kinase isoenzyme evaluation, electrocardiography, chest x‐ray, and physical examination of the heart and lungs.
D, Danilowicz +3 more
openaire +2 more sources
Journal of the American Academy of Orthopaedic Surgeons, 2002
Duchenne muscular dystrophy is an X-linked disease of muscle caused by an absence of the protein dystrophin. Affected boys begin manifesting signs of disease early in life, cease walking at the beginning of the second decade, and usually die by age 20 years. Until treatment of the basic genetic defect is available, medical, surgical, and rehabilitative
openaire +2 more sources
Duchenne muscular dystrophy is an X-linked disease of muscle caused by an absence of the protein dystrophin. Affected boys begin manifesting signs of disease early in life, cease walking at the beginning of the second decade, and usually die by age 20 years. Until treatment of the basic genetic defect is available, medical, surgical, and rehabilitative
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
PREDNISONE IN DUCHENNE MUSCULAR DYSTROPHY
The Lancet, 1974Abstract Fourteen patients with typical Duchenne muscular dystrophy were treated with prednisone for up to 28 months. Thirteen patients showed improvement in motor power and muscular activities while on prednisone. In eight of these, the improvement has been maintained for up to 28 months, while in five others deterioration has occurred while on ...
D B, Drachman, K V, Toyka, E, Myer
openaire +2 more sources
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.
openaire +2 more sources
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 ...
openaire +2 more sources
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
openaire +2 more sources