Duchenne Becker Muscular Dystrophy
Mostrando 1-12 de 69 artigos, teses e dissertações.
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1. Fast detection of deletion breakpoints using quantitative PCR
Abstract The routine detection of large and medium copy number variants (CNVs) is well established. Hemizygotic deletions or duplications in the large Duchenne muscular dystrophy DMD gene responsible for Duchenne and Becker muscular dystrophies are routinely identified using multiple ligation probe amplification and array-based comparative genomic hybridizat
Genet. Mol. Biol.. Publicado em: 16/06/2016
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2. Avaliação neuropsicológica em crianças com distrofia muscular de Duchenne, acompanhadas no ambulatório de doenças neuromusculares do Hospital das Clínicas da Universidade Federal de Minas Gerais
Objective: to revise the literature on the neuropsychological evaluation and presence of ADHD in children and young adults with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) and the correlation between cognitive functions and genetic factors. Source of data: A nonsystematic bibliographic review, for the period 1966-2010, using PubMed/
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 23/02/2010
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3. Diagnóstico Molecular Diferencial das Principais Doenças Neuromusculares Degenerativas em Crianças da População do Rio de Janeiro / Molecular Differential Diagnosis of Main Neuromuscular Degenerative Disease in Children Population of Rio de Janeiro
Dentre o grande número de doenças de origem genética conhecidas e que afetam os seres humanos, existem algumas que são degenerativas e que acometem tecidos importantes. Neste trabalho foram estudadas as doenças neuromusculares mais freqüentes na população mundial: Distrofia Muscular de Duchenne (DMD) e Becker (DMB) e Atrofia Muscular Espinhal (AME).
Publicado em: 2009
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4. Caracterização do diagnóstico clínico e detecção no gene da distrofia muscular de Duchenne/Becker no Rio Grande do Sul por PCR quantitativo em tempo real
A Distrofia Muscular de Duchenne/Becker (DMD/BMD) é a doença neuromuscular mais freqüente em crianças, afetando uma em cada 3.500 nascidos vivos do sexo masculino (DMD), e um em cada 20.000 (BMD). A criança nasce aparentemente saudável, com o aparecimento gradual e progressivo dos sintomas desde o primeiro ano de vida. A perda da habilidade de caminhar
Publicado em: 2008
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5. Expression of transforming growth factor-beta 1 in dystrophic patient muscles correlates with fibrosis. Pathogenetic role of a fibrogenic cytokine.
Duchenne muscular dystrophy is a fatal disorder characterized by progressive muscular weakness, wasting, and severe muscle contractures in later disease stages. Muscle biopsy reveals conspicuous myofiber degeneration and fibrosis substituting muscle tissue. We quantitatively determined mRNA of the potent fibrogenic cytokine transforming growth factor-beta 1
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6. Distinction between Duchenne and other muscular dystrophies by ribosomal protein synthesis.
Ribosome concentration, ribosome distribution on sucrose density gradients, and in-vitro ribosomal amino-acid incorporation (noncollagen and collagen synthesis) were studied in muscle biopsy samples obtained from 30 patients with Duchenne muscular dystrophy, seven patients with Becker muscular dystrophy, and 10 with facioscapulohumeral muscular dystrophy. Ri
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7. Linkage between the loci for benign (Becker-type) X-borne muscular dystrophy and deutan colour blindness
A family is described in which benign Becker type X-linked muscular dystrophy and deutan colour blindness are segregating. The lod scores from this family have been added to those obtained in a family previously reported (Emery et.al, 1968/1969) and give an estimate of 0·23 for the recombination fraction with 95% confidence limits of 0·13 to 0·43. These r
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8. Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses.
Immunoblot characterization and immunofluorescence localization of dystrophin are presented for 76 human patients with various neuromuscular diseases. Normal dystrophin (shown by immunoblotting) was invariably visualized as a continuous, peripheral membrane immunostaining of myofibers. Biochemical abnormalities of dystrophin (either lower or higher molecular
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9. The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.
Detection of large rearrangements in the dystrophin gene in Duchenne and Becker muscular dystrophy is possible in about 65-70% of patients by Southern blotting or multiplex PCR. Subsequently, carrier detection is possible by assessing the intensity of relevant bands, but preferably by a non-quantitative test method. Detection of microlesions in Duchenne and
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10. Erythrocyte membrane abnormalities in Duchenne muscular dystrophy monitored by saturation transfer electron paramagnetic resonance spectroscopy.
Saturation transfer electron paramagnetic resonance and the spin label 2-(3-carboxypropyl)-4,4-dimethyl-2-tridecyl-3-oxazolidinyloxyl were used to study erythrocytes from patients with Duchenne muscular dystrophy or Becker syndrome and from age-matched normal boys. There were significant differences in the spectral intensities of erythrocytes from Duchenne p
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11. Duchenne and Becker muscular dystrophy mutations: analysis using 2.6 kb of muscle cDNA from the 5' end of the gene.
We have isolated overlapping human fetal muscle cDNAs encompassing 2.6kb which are localised very close to the 5' end of the Duchenne muscular dystrophy (DMD) gene. Using DNA from patients with deletions of previously reported genomic probes, we have mapped the exons across the region. Investigation of deletions in both DMD and Becker muscular dystrophy (BMD
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12. Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome.
A study of DNA restriction fragment polymorphisms and Becker muscular dystrophy has shown eight families informative for the cloned sequence L1.28, which is located on the short arm of the X chromosome between Xp110 and Xp113. Analysis of these families reveals linkage between the two loci, with the maximum likelihood estimate of the genetic distance being 1