merosin


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merosin

The muscle isoform of laminin, which is characterised by high-affinity, Ca2+-dependent binding to alpha-dystroglycan, thereby linking the sarcolemmal membrane to the extracellular matrix.

merosin

A glycoprotein normally found in the basement membrane of muscles; it helps muscle cells adhere to and interact with each other and the extracellular matrix. Deficiencies of merosin produce several rare autosomal recessive forms of muscular dystrophy.
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Nina got involved in the cause after family friends Louise and Paul Jaworski were told that their threeyear-old daughter was diagnosed with merosin deficient muscular dystrophy.
Harry, who attends St Mary's Catholic Primary School, has a very rare condition called congenital muscular dystrophy merosin negative which means he will never be able to walk, crawl or stand.
Kate also congratulated wheelchairbound Bethany Woods, 10, who has merosin negative congenital muscular dystrophy, for her rousing performance of the song Rainbow Connection, made famous in The Muppet Movie.
Harry Vaughan was diagnosed as suffering from congenital Muscular Dystrophy Merosin Negative shortly after his first birthday.
Hemangiomas are further characterized by cell markers (GLUT-1, merosin, Lewis Y) that are otherwise found only in human placental tissue.
Decreased staining of the laminin [alpha]2-chain (merosin) has been observed in WWS, although patients have been reported with normal amounts of merosin (146, 147).
The four antigens that are highly expressed both by infantile hemangioma endothelium and placental chorionic villi are glucose transporter 1 along with Lewis Y, Fc-gammaRII, and merosin.
One of the major forms of the disease, MCMD is caused by mutations in a gene called LAMA2, which causes deficiencies in the protein merosin and leads to structural defects in the protein scaffold that is critical to muscle integrity.
Mutation analysis for merosin and the sarcoglycan proteins are well described in Chapters 14 and 15.