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
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.