dystrophin

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dys·tro·phin

(dis-trō'fin), [MIM*300377]
A protein found in the sarcolemma of normal muscle; it is missing in people with pseudohypertrophic muscular dystrophy and in other forms of muscular dystrophy; its role may be in the linkage of the cytoskeleton of the muscle cell to extracellular protein.
Synonym(s): distropin, dystropin

dystrophin

(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

[distrof′in]
a missing or defective protein in Duchenne muscular dystrophy that is localized to the sarcolemma of the muscle cell membrane. Its absence results in abnormal cell permeability, which may lead to cell destruction.

DMD

A gene on chromosome Xp21.2 that encodes dystrophin, a protein that anchors the extracellular matrix to the cytoskeleton via F-actin. It is the ligand for dystroglycan and a central component of the dystrophin-glycoprotein complex, which accumulates at the neuromuscular junction and at various synapses in the peripheral and central nervous systems and has a structural function in stabilising the sarcolemma. It plays a key role in signalling events and synaptic transmission. DMD is a highly complex gene, containing at least eight independent, tissue-specific promoters and two polyA-addition sites; it is the largest gene found in nature (2.4 Mb).

Molecular pathology
Defects of DMD cause both Duchenne- and Becker-type muscular dystrophy.

dys·tro·phin

(dis-trō'fin)
A protein found in the sarcolemma of normal muscle; it is missing in individuals with pseudohypertrophic muscular dystrophy and in other forms of muscular dystrophy.
Synonym(s): distropin, dystropin.

dystrophin

A large, rod-shaped structural protein situated in the sub-sarcolemmal region of the muscle fibre membrane. A mutation of the dystrophin gene that eliminates dystrophin production causes DUCHENNE MUSCULAR DYSTROPHY; a mutation that codes for a smaller amount of dystrophin or a modified molecule causes Becker dystrophy. See also MUSCULAR DYSTROPHY.

Dystrophin

A protein that helps muscle tissue repair itself. Both DMD and BMD are caused by flaws in the gene that instructs the body how to make this protein.
Mentioned in: Muscular Dystrophy

dystrophin

a membrane-associated protein, deficient in some types of muscular dystrophy.
References in periodicals archive ?
We analyzed 84 DNA samples from the National Taiwan University Hospital, including DNA from 11 patients with dystropin gene deletions previously detected by gel electrophoresis, 1 patient with a duplication detected by the multiplex PCR/DHPLC detection method and confirmed by quantitative real-time PCR (27), 23 obligate carriers and noncarriers from families with DMD patients, and 50 unaffected females from the general population.
To amplify the dystropin gene, multiplex PCRs of the dystropin gene were carried out as described in Chamberlain et al.
Using this technique to detect common exon deletions in the dystropin gene, we assigned 19 DNA fragments to 4 sets of multiplex PCR reactions according to their sizes and amplification efficiencies.
17), using fluorescently labeled primers to amplify 25 exons of the dystropin gene in two multiplex reactions, found it necessary to reduce the number of PCR cycles to less than 20 to obtain accurate quantification.
There, PCR-restriction fragment length polymorphism analysis was done to verify the mutation in the dystropin gene, and histochemical analysis confirmed the typical muscle fiber degeneration pattern in skeletal muscle samples that were used for Western blot analysis.
The diagnosis of DMD was based on standard clinical protocols of the Departments of Pediatrics at the Universities of Innsbruck and Freiburg based on the detection of the characteristic mutations in the dystropin gene by PCR testing and the work up of muscle biopsy specimens demonstrating typical morphological changes and the absence of dystropin.
Dystropin staining with immunofluorescence confirmed the absence of dystropin in mdx mice.
Clinical samples included DNA from normal female controls, affected males with deletional forms of DMD/BMD, unrelated obligate carriers containing deletions in the dystropin gene, and female family members at risk for being carriers.