نتایج جستجو برای: dystrophin deletions
تعداد نتایج: 22547 فیلتر نتایج به سال:
Duchenne muscular dystrophy is due to mutations of the dystrophin gene. These are large deletions or duplications in 80% of cases, while premature stop codons (nonsense point mutations) account for 7% of cases. This subgroup of patients may take advantage of the properties of the antibiotic gentamicin to suppress stop codons (readthrough). The efficiency of the readthrough varies inversely to t...
BACKGROUND Duchenne muscular dystrophy (DMD) is a rare, degenerative, X-linked genetic disease that results in progressive muscle loss and premature death, most commonly from respiratory or cardiac failure. DMD is primarily caused by whole exon deletions, resulting in a shift of the dystrophin mRNA reading frame that prevents production of functional dystrophin protein. Eteplirsen, a phosphorod...
BACKGROUND Duchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. We designed this study to determine the prevalence of left bundle branch block (LBBB), whether there is a relationship between LBBB and genetic pattern, and to assess predictive factors for acute cardiac events and mortality in adult DMD patients. METHOD...
An inherited dystrophin deletion without muscle weakness Deletions of the dystrophin gene are known to be present in approximately 60 to 70%6 of Duchenne (DMD) and Becker (BMD) patients. We describe a boy and his maternal grandfather who both have raised creatine kinase levels and an identical deletion including exons 14-18 of the dystrophin gene but no muscle weakness. Muscle histology is norm...
In this study, Dr. Vilain’s team identified both single and multiple exon deletions up to 250 Kbp in size, a 13 Kbp duplication, and a 5.1 Mbp inversion all disrupting the dystrophin gene of study patients. Large structural variants of this size are typically detected with poor sensitivity using NGS or long-read sequencing. They also successfully identified the carrier status in mothers of the ...
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct diagnosis is important for family planning and providing proper care to patients according to published guidelines. With mutation-specific therapies under devel...
More than 60% of Duchenne/Becker muscular dystrophy (DMD/BMD) cases is due to deletions in the dystrophin gene, therefore the large majority of female carriers is heterozygote for an intragenic deletion. A new protocol is presented here for detection of these heterozygotes, based on multiplex semi-quantitative PCR amplification of genomic DNA. The method is non-radioactive, fast and easy to per...
BACKGROUND Duchenne muscular dystrophy (DMD), which afflicts 1 in 3500 boys, is one of the most common genetic disorders of children. This fatal degenerative condition is caused by an absence or deficiency of dystrophin in striated muscle. Most affected patients have inherited or spontaneous deletions in the dystrophin gene that disrupt the reading frame resulting in unstable truncated products...
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