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.

dystrophin

(ˈdɪstrəfɪn)
n
(Pathology) a protein, the absence of which is believed to cause muscular dystrophy
References in periodicals archive ?
Natassia Vieira, PhD, a fellow in Kunkel's lab from the University of SEuo Paolo and first author on the Cell paper, had been studying a colony of golden retrievers in Brazil that had the classic DMD mutation, which causes loss or dysfunction of the dystrophin protein.
DMD, and BMD, which is the less severe form, are neuromuscular diseases caused by heritable mutations in the single dystrophin gene, which ultimately lead to progressive muscle weakness and degeneration due to destabilization of the sarcolemma (muscle cell membrane) and the resultant loss of muscle integrity.
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.
Duchenne muscular dystrophy is caused by mutations in the very large dystrophin gene, which is too large to transfer when incorporated into the tiny adeno-associated virus.
MLPA has enabled more reliable and faster quantitative detection of the entire dystrophin gene containing 79 exons to study the deletions and duplications (17-20).
Top-line biopsy data showed the generation of muscle fibers with the protein dystrophin of more than 50% of normal in a patient suffering from Duchenne muscle dystrophy (DMD), after being given the drug, AVI-4658.
The problem is caused by a lack of protein dystrophin, which is vital to muscle fibres.
Because of a genetic defect, people with Duchenne don't make the protein dystrophin, which is essential for maintaining the structural integrity of muscle.
Because of a genetic defect, their bodies don't make a protein called dystrophin, which is essential for maintaining the structural integrity of muscle.
Both DMD and BMD are caused by mutations in the dystrophin gene locus [DMD, [6] dystrophin (muscular dystrophy, Duchenne and Becker types)] (6), which consists of 79 exons and 8 tissue-specific promoters.
Muscular dystrophy is a genetic muscle wasting condition caused by abnormal levels of dystrophin protein.