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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.
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.
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.
DMDA 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).
Defects of DMD cause both Duchenne- and Becker-type muscular dystrophy.
dystrophinA 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.
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
a membrane-associated protein, deficient in some types of muscular dystrophy.