dystrophin


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dys·tro·phin

 (dĭs′trə-fĭn′)
n.
A large protein that stabilizes muscle fibers by forming a link between the internal cytoskeleton and a protein complex in the plasma membrane that is connected to the extracellular matrix. Genetic mutations resulting in the absence of dystrophin cause Duchenne muscular dystrophy, and those resulting in insufficient or abnormal dystrophin cause Becker muscular dystrophy.

American Heritage® Dictionary of the English Language, Fifth Edition. Copyright © 2016 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.

dystrophin

(ˈdɪstrəfɪn)
n
(Pathology) a protein, the absence of which is believed to cause muscular dystrophy
Collins English Dictionary – Complete and Unabridged, 12th Edition 2014 © HarperCollins Publishers 1991, 1994, 1998, 2000, 2003, 2006, 2007, 2009, 2011, 2014
References in periodicals archive ?
[42] found that platelets have a disorganized cytoskeleton due to dysfunctional dystrophin that may result in increased bleeding during surgery.
The drug aims to arrest the progression of the disease by enabling dystrophin production using other components of the gene, the institute and the drugmaker said Thursday.
"We believe this is the defect because we found that there's about half as much dystrophin protein in affected pigs as there is in their normal siblings," says Nonneman, who's in the USMARC Reproduction Research Unit.
Much like dystrophin, human micro-utrophin can support muscle fiber strength and prevent muscle fiber injury throughout the body.
Mutation detection technique is labor intensive, expensive and sophisticated, so alternative, reliable and feasible technique is linkage analysis by using STR in the introns of dystrophin gene.
Three of the participants in the higher dose cohort showed dystrophin levels exceeding 18 per cent of those found in normal muscle.
Key Words: Dystrophin, Immunohistochemistry (IHC), Muscular Dystrophies.
Key Words: Ducheme muscular dystrophy, Becker's muscular dystrophy, dystrophin, frozen sections.
Generation of functional dystrophin is considered critical for successful treatment of DMD, AVI said.
Next, the group implanted these muscle stem cells from normal mice into mice lacking the gene to make dystrophin. Within a couple of weeks of the transplant, mice with the stem cell transplant had markedly improved muscle fibers.
Next, the group implanted muscle stem cells from normal mice into mice lacking the gene to make dystrophin. The mice have the same genetic defect as that implicated in Duchenne muscular dystrophy, Conboy says.
The diagnosis was established from clinical features consistent with DMD or BMD, absent or altered dystrophin production (1) (as determined by immunofluorescence assay or western blot analysis), and/or a clear X-linked family history of the disease (2).