Myotonic Dystrophy
Mostrando 25-36 de 188 artigos, teses e dissertações.
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25. A study of DNA methylation in myotonic dystrophy.
We have examined the hypothesis that the severe congenital form of myotonic dystrophy is caused by genomic imprinting at the level of differential DNA methylation of maternal and paternal alleles. Probes encompassing the 5', central, and 3' regions of the myotonic dystrophy protein kinase gene were used on blots of blood DNA from congenital and adult onset p
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26. Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy.
Three chromosome 19 markers known to be linked to myotonic dystrophy have been studied in nine families with peripheral neurofibromatosis (Von Recklinghausen's disease). Clear evidence against linkage has been found for all three markers, excluding the peripheral neurofibromatosis gene from the myotonic dystrophy region of chromosome 19. Previous reports of
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27. Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure.
Myotonic dystrophy is caused by an expansion of a CTG triplet repeat sequence in the 3' noncoding region of a protein kinase gene, yet the mechanism by which the triplet repeat expansion causes disease remains unknown. This report demonstrates that a DNase I hypersensitive site is positioned 3' of the triplet repeat in the wild-type allele in both fibroblast
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28. Mitochondrial DNA does not appear to influence the congenital onset type of myotonic dystrophy.
Neither the maternal inheritance pattern nor the early onset of congenital myotonic dystrophy are fully explained. One possible mechanism is that mitochondrial DNA (mtDNA) mutations might interact with the DM gene product, producing an earlier onset than would otherwise occur. We have used Southern hybridisation to show that high levels of major rearrangemen
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29. Cataract and myotonic dystrophy: the role of molecular diagnosis.
Myotonic dystrophy (dystrophia myotonica), the commonest and most variable of the muscular dystrophies of adult life, has long been known to be associated with cataract, while slit-lamp examination for specific lens opacities has been one of the principal methods of presymptomatic detection of gene carriers. The recent discovery that the myotonic dystrophy m
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30. The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects.
Although the genetic basis of the congenital form of myotonic dystrophy has recently been clarified, data as to outcome in terms of life expectancy and morbidity are scanty. Life table data based on a cohort of 115 patients with a confirmed diagnosis of congenital myotonic dystrophy are presented. The data suggest a 25% chance of death before 18 months of ag
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31. Daytime sleep in myotonic dystrophy is not caused by sleep apnoea.
Daytime sleepiness is common in myotonic dystrophy and might be attributed to disturbed nocturnal breathing. Seventeen out of 22 patients complained of excessive daytime sleepiness, resembling "idiopathic hypersomnolence". Sleep apnoea might have contributed to daytime sleepiness in only three of 17 patients. Treatment with the central stimulant methylphenid
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32. Myotonic dystrophy and hyperparathyroidism: association with neurofibromatosis and multiple endocrine adenomatosis type 2A.
Four patients with hyperparathyroidism associated with myotonic dystrophy have been identified. All were females aged between 2 and 45 years. They were from three separate families, with two related patients being mother and daughter. In addition, one patient had medullary carcinoma of the thyroid and was diagnosed as having multiple endocrine adenomatosis,
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33. Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers.
Linkage was shown between the myotonic dystrophy locus (DM) and a highly polymorphic AC repeat marker within the kallikrein (KLK1) locus (Z = 3.00, theta = 0.0). Linkage between KLK1 and the highly polymorphic AC repeat marker within the apolipoprotein C2 (APOC2) locus, which had been established in normal families, was confirmed in myotonic dystrophy famili
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34. Protein Kinase Activity in Erythrocyte Ghosts of Patients with Myotonic Muscular Dystrophy
Myotonic muscular dystrophy is a disorder of humans that involves many organ systems. Physiological studies have suggested that the fundamental defect is of membrane origin. Heretofore, no reproducible metabolic abnormalities have been demonstrated. In the present studies we used erythrocyte ghosts as a convenient source of purified membranes that do not pos
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35. Abnormal regulation of monocyte insulin-binding affinity after glucose ingestion in patients with myotonic dystrophy.
Insulin insensitivity of uncertain etiology often exists in myotonic muscular dystrophy, a multitissue, autosomal dominant disorder hypothesized to be a hereditary membrane disease. The present studies show that monocytes from patients with myotonic dystrophy fail to demonstrate the normally observed qualitative increase in insulin-binding affinity after ora
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36. DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model
Myotonic dystrophy (DM) is the most common form of muscular dystrophy and is caused by expansion of a CTG trinucleotide repeat on human chromosome 19. Patients with DM develop atrioventricular conduction disturbances, the principal cardiac manifestation of this disease. The etiology of the pathophysiological changes observed in DM has yet to be resolved. Hap
American Society for Clinical Investigation.