998 resultados para Becker, Hellmut
Resumo:
We studied cytogenetically 48 male patients with Duchenne or Becker muscular dystrophy. All of them showed normal X chromosomes. Fragility of Xp21 was investigated in 1400 G-banded chromosomes of 28 patients and only one break was observed at this band (0.07%). This low frequency of breakage excludes Xp21 as a fragile site in these patients.
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One of the factors that affect the control of brown - roots environmental bedbug is the wide availability of plant species. Thus, this study aimed to evaluate the migration of nymphs of the brown - roots between plant species of economic importance and invasive stinkbug. Eight species of plants have been established in a set formed by eight circular PVC containers, connected symmetrically with free communication to a central circular container. The experiment was arranged in a completely randomized design and consisted of eight treatments and six replications. The test evaluations were performed on 15o , 30o , 45o and 60o days after the release of the nymphs, by counting the insects that migrated to the roots of different plants. It was observed that by the 30o day of early release nymphs, no significant differences (P < 0,05) in the choices nymph by plants. B. alata at 15 days of initial release and B. alata and grass-dictyoneura at 30 days were plants that had higher migration. All counts were carried out on 45o and 60o days, the migration of U. brizantha cv. Marandu presented significantly higher than all other species tested plants nymphs.
Resumo:
We describe a large Brazilian consanguineous kindred with 3 clinically affected patients with a Thomsen myotonia phenotype. They carry a novel homozygous nonsense mutation in the CLCN1 gene (K248X). None of the 6 heterozygote carriers show any sign of myotonia on clinical evaluation or electromyography. These findings confirm the autosomal recessive inheritance of the novel mutation in this family, as well as the occurrence of phenotypic variability in the autosomal recessive forms of myotonia. Muscle Nerve, 2012
Resumo:
Both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations of the X-linked dystrophin gene. BMD patients are less affected clinically than DMD patients. We present five patients with a diagnosis of BMD. First, two identical twins, with a deletion of exon 48 of the dystrophin gene, who experienced prominent muscle cramps from the age of three. The histopathological examination of muscle biopsies of these two twins revealed only very slight muscle fiber alterations. Second, two brothers who displayed marked, unusual intrafamilial variability of the clinical picture as well as showing a new point mutation in the dystrophin gene. And finally, a fifth boy who displayed a new point mutation in the dystrophin gene. Although he was clinically asymptomatic at the age of 15 and muscle biopsy only showed very minor myopathic signs, serum Creatine Kinase (CK) levels had been considerably elevated for years. Taken together, these cases add to the spectrum of marked discrepancies in clinical, histopathological and molecular genetic findings in BMD.
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von W. Becker
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von Adolf Salvendi
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Karl Schwarz
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Scan von Monochrom-Mikroform