نتایج جستجو برای: dystrophin deletions
تعداد نتایج: 22547 فیلتر نتایج به سال:
duchene and becker muscular dystrophy (dmd and bmd) are x-linked conditions that result from a defect in the dystrophin gene located on xp21. dmd is the most frequent neuromuscular disease in humans (1/3500 male newborns). in approximately 65% of dmd and bmd patients, deletions in the dystrophin gene have been identified as the molecular determinant. population-based variations in frequency and...
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the dystrophin gene. We studied 106 patients with a diagnosis of probable DMD/BMD by analyzing 20 exons of the dystrophin gene in their blood and, in some of the cases, by immunohistochemical assays for dystrophin in muscle biopsies. In 71.7% of the patients, deletions were found in at least one of ...
this study determines the value of linkage analysis using six rflp markers for carrier detection and prenatal diagnosis in familial dmd/bmd cases and their family members for the first time in the iranian population. we studied the dystrophin gene in 33 unrelated patients with clinical diagnosis of dmd or bmd. subsequently, we determined the rate of heterozygosity for six intragenic rflp marker...
how to cite this article: barzegar m, habibi p, bonyady m, topchizadeh v, shiva sh. exon deletion pattern in duchene muscular dystrophy in north west of iran. iran j child neurol. 2015 winter; 9(1): 42-48. abstract objective duchene and becker muscular dystrophy (dmd/ bmd) are x-linked disorders that both are the result of heterogeneous mutations in the dystrophin gene. the frequency and distri...
introduction: duchene/ becker (dmd/bmd) muscular dystrophy is the most frequent neuromuscular disease in children which is inherited as an x-linked recessive trait. the disease is caused by partial deletion in dystrophin gene. we developed a rapid and robust method for direct identification of female carriers of deletions and duplications in the dystrophin gene, in order to prevent the affected...
This report is the second part of a trilogy from a multidisciplinary study which was undertaken to record the relationships between clinical severity and dystrophin gene and protein expression. The aim in part 2 was to correlate the effect of gene deletions on protein expression in individual patients with well defined clinical phenotypes. Among the DMD patients, most of the deletions/duplicati...
Duchenne muscular dystrophy is caused by mutations in the DMD gene that disrupt the open reading frame and prevent the full translation of its protein product, dystrophin. Restoration of the open reading frame and dystrophin production can be achieved by exon skipping using antisense oligonucleotides targeted to splicing elements. This approach aims to transform the Duchenne muscular dystrophy ...
Dystrophin plays an important role in skeletal muscle by linking the cytoskeleton and the extracellular matrix. The amino terminus of dystrophin binds to actin and possibly other components of the subsarcolemmal cytoskeleton, while the carboxy terminus associates with a group of integral and peripheral membrane proteins and glycoproteins that are collectively known as the dystrophin-associated ...
duchenne muscular dystrophy (dmd) and becker muscular dystrophy (bmd) can be caused by deletions, duplications or point mutations in the dmd gene that encodes dystrophin. partial gene duplications account for up to 5-10 % of dmd and up to 5- 19% of bmd cases. cases with gene duplication in dmd/bmd are determined by quantitative methods such as maph, sothern blotting and q-pcr that are laborious...
Duchenne muscular dystrophy (DMD) is caused mostly by internal deletions in the gene for dystrophin, a protein essential for maintaining muscle cell membrane integrity. These deletions abrogate the reading frame and the lack of dystrophin results in progressive muscle deterioration. DMD patients experience progressive loss of ambulation, followed by a need for assisted ventilation, and eventual...
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