Myotonic Dystrophy
Mostrando 13-24 de 188 artigos, teses e dissertações.
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13. Decreased insulin sensitivity of forearm muscle in myotonic dystrophy.
Previous studies of patients with myotonic dystrophy have demonstrated hyperinsulinism after glucose loading. This hyperinsulinism has been attributed by some investigators to tissue insulin resistance. We have directly studied insulin sensitivity of forearm muscle in patients having such hyperinsulinism. The effect of an intrabrachial arterial insulin infus
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14. Coincidence of neurofibromatosis and myotonic dystrophy in a kindred.
Neurofibromatosis and myotonic dystrophy have occurred in ten members of a nonconsanguineous family with a high degree of concordance. The expression of neurofibromatosis is peripheral, and the expression of myotonic dystrophy has produced at least moderately severe disability. Neither disease has appeared to alter the phenotypic expression of the other when
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15. Myotonic dystrophy, syringomyelia, and 2/13 translocation in the same family.
The present report describes a sibship with 2 individuals affected by myotonic dystrophy and a third with syringomyelia. The mother was affected by myotonic dystrophy. A balanced 2/13 translocation was detected in the individual with syringomyelia, in one affected by myotonic dystrophy and in their clinically normal father. The association between the phenot
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16. Early onset myotonic dystrophy in association with polyneuropathy.
A patient with early onset of myotonic dystrophy, with associated neuropathy and epilepsy, is presented. It is postulated that his disorder was inherited through a recessive, pleomorphic gene. His differential diagnosis is discussed and the literature reviewed. The clinical variability of myotonic dystrophy is stressed and the diagnostic difficulties encount
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17. Myotonic dystrophy and thymoma: A necropsy case report
This report describes a 46 year old woman having both thymoma and myotonic dystrophy. Laboratory studies revealed an anterior mediastinal mass, lymphocytopenia, anergic reaction to dinitrochlorobenzene and electrophysiological evidence of myotonia. Postmortem examination disclosed a thymoma with predominant proliferation of epithelial cells. This paper is th
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18. Expression of membrane antigens in myotonic dystrophy.
Muscle biopsies from a series of myotonic dystrophy patients were analysed for expression of the nerve regulated gene products neural cell adhesion molecule (N-CAM) and 5.1H11. All eight biopsy specimens tested strongly expressed N-CAM and 5.1H11 as assessed by indirect immunofluorescence analysis. These results can be compared with those of Renaud et al (Na
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19. Assessment of autonomic function in myotonic dystrophy.
Published reports suggested autonomic nervous system dysfunction in myotonic dystrophy but were inconclusive partly due to small patient numbers and because only a limited number of tests was used. Autonomic nervous system function with noninvasive tests was assessed in ten myotonic dystrophy patients and age and sex matched healthy controls. Statistically s
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20. Electron Spin Resonance Studies of Erythrocytes from Patients with Myotonic Muscular Dystrophy
Electron magnetic resonance experiments have demonstrated that spin-labeled myotonic erythrocyte membranes have spectra that are recognizably different from those of normal erythrocytes. The spin label incorporated in the erythrocyte membranes of patients having myotonic muscular dystrophy is apparently located in a less polar and somewhat more fluid region
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21. Ascertainment of myotonic dystrophy through cataract by selective screening.
Myotonic dystrophy (DM) almost always results from the expansion of an unstable (CTG)n repeat. The mutation can be detected directly. Affected patients with cataracts may have minimal additional signs of the disorder, but all are at risk of life threatening complications. We have studied the efficacy of detecting new families with myotonic dystrophy by selec
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22. RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.
Myotonic dystrophy is a dominantly inherited clinically variable multisystemic disorder, and has been found to be caused by heterozygosity for a trinucleotide repeat expansion mutation in the 3' untranslated region of a protein kinase gene (DM kinase). The mechanisms by which the expanded repeat in DNA results in a dominant biochemical defect and the varied
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23. Measurement of motor conduction velocity with Hopf's technique in myotonic dystrophy.
Hopf's technique was used to measure maximal and minimal motor nerve conduction velocities, and the percentage of fibres with intermediate velocity, in the posterior tibial nerve in patients with myotonic dystrophy. A reduction of maximal and minimal conduction velocities was found. The distribution of fibres with intermediate velocity was nearly identical t
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24. Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers.
The close genetic linkage between the loci for apolipoprotein CII (ApoCII) and myotonic dystrophy makes presymptomatic detection and prenatal diagnosis feasible. We report three years' service experience of providing presymptomatic detection and prenatal diagnosis for myotonic dystrophy in 99 families. Careful clinical study of older family members remains i