DMD

(redirected from dystrophin)
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Synonyms for DMD

a doctor's degree in dental medicine

References in periodicals archive ?
The most promising therapies for DMD are gene therapy, exon skipping, and stop codon read-through, all aiming at restoring the expression of dystrophin. A drisapersen phase III clinical trial (NCT01254019), with 186 patients, aiming to induce skipping of exon 51 and de novo dystrophin production in patient muscle, failed to show significant improvement of the primary out come measure, the 6-minute-walktest[86].
One chromosomal region containing the dystrophin gene was found to be associated with the syndrome.
Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation dependent probe amplification method.
"Muscular dystrophy" traditionally refers to a group of genetically determined, progressive, degenerative disorders of the muscle.8 Duchenne and Becker dystrophies are now called dystrophinopathies because they are caused by the mutations of the dystrophin gene.7 The dystrophin gene is the largest gene in the human genome spanning more than 3Mb (almost 0.1% of the entire human genome) and approximately 1.5% of the X-chromosome.2
IHC is a powerful tool in distinguishing different muscular dystrophies because of its speed, accuracy and the increasing availability of antibodies to dystrophin and its associated proteins (Sheriffs et al., 2001).
In 4.3% of the cases, no mutations in the dystrophin gene could be identified after DNA analysis.
Three four-day-old DGR dogs submitted to intravenous injection with an adenovirus-associated vector (AAV9) carrying a human codon with dystrophin minigene under the control of the cytomegalovirus (CMV), presented generalized muscle transgene expression after 16 weeks of treatment (KORNEGAY et al., 2010).
It's important to remember that we're not going after the primary cause of the disease, dystrophin deficiency.
Interestingly, skeletal muscle cells differentiated from manifesting carrier of DMD-derived hiPSCs with XaXa patterns expressed dystrophin. Our results suggest that the inactivated X chromosome in the female manifesting carrier of DMD was activated during reprogramming, and XCI occurred randomly on differentiation.
Patients with DMD have a mutation that disrupts production of the protein dystrophin, leading to muscle degeneration and death'.
The progressive disease is caused by a mutation in the x-linked DMD gene that encodes the protein dystrophin.
Previously, Carmeseal-MD had been shown to improve the performance of dystrophic heart and diaphragm damaged by the lack of dystrophin, a key structural membrane protein.
Mutations of the dystrophin DMD gene are the cause of two devastating and to date incurable diseases, Duchenne (DMD) and Becker (BMD) muscular dystrophies [1].
A margin line between DMD and BMD is only justified by the presence of dystrophin protein along with muscle strength.
The genetic illness is a progressive disease that is caused by mutations within an individual's DNA that prevents the body from producing the protein dystrophin. This protein forms essential connections in the muscle tissue, and without it muscles degenerate and become weak.