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DMDDuchenne Muscular Dystrophy
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DMDDiphenyl-Methane Diisocyanate
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References in periodicals archive ?
The failure of the only phase III study of antisense oligonucleotide (drisapersen) performed so far has raised much discussion about the validity of dystrophin as a biomarker and the 6-minute-walktest as an outcome measure [86-88].
"This syndrome maps to the dystrophin gene--DMD, which stands for Duchenne muscular dystrophy.
Based on them they were grouped under LGMD before the use of dystrophin IHC that showed a mosaic pattern, after which they were diagnosed as females with dystrophinopathies.12
b-spectrin and dystrophin (Novocastra) on formalin fixed paraffin embedded muscle biopsies in children suffering from muscular dystrophies such as Duchenne, Beckers and Limb Girdle types.
The dystrophin gene spans a 2.2-Mb region at Xp21 that is exposed to intense deletion pressure in all populations.
Conversely, transplantation of mesangioblasts (stem cells associated with vessels) in DGR dogs resulted in a great recovery of dystrophin expression and in the reestablishment of muscular morphology and function (confirmed by the measurement of the contraction force of the individual fibers), which allowed for a remarkable clinical improvement and preservation of motor activity (SAMPAOLESI et al., 2006).
Researchers sent gene-editing components to cells in mice using the adeno-associated virus 9, and the rodents started producing dystrophin and showing improvement to skeletal muscle and the heart.
"The degree of protection enabled mdx skeletal muscle to function similarly to control mice, with the protection achieved comparable to transgenic animal studies using highly functional dystrophin molecules," according to the senior author, Dr.
Depending on the fact that mutations maintain or not of the reading frame, dystrophin will or not be present according to the Monaco rule [6].
KEY WORDS: Becker muscular dystrophy, dystrophin gene, exon, deletion