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Samples in periodicals archive:
The goal of the new agreement is to develop a small-molecule-based medicine to potentially reverse facioscapulohumeral muscular dystrophy, or FSHD, by inhibiting the activity of a protein that is incorrectly expressed by the DUX4 gene in people with the disease.
The findings represent the latest in the team's series of groundbreaking discoveries begun in 2010 regarding the genetic causes of facioscapulohumeral muscular dystrophy, or FSHD.
Facioscapulohumeral muscular dystrophy affects slightly more men than women and those with milder forms may not have symptoms until middle age.
Facioscapulohumeral muscular dystrophy, or FSHD, is the world's third most common type of muscular dystrophy.
20 /PRNewswire/ -- "This is what we have all been working towards and fighting for," says Daniel Paul Perez, co-founder, president and CEO of the FSH Society and a 48-year-old patient with facioscapulohumeral muscular dystrophy (FSHD), applauding the researchers whose study on yesterday's ScienceXpress , the journal Science 's online advanced edition, pinpoints for the first time the exact genetic mechanism triggering FSHD, the most common muscular dystrophy.
The finding by an international team of researchers settles a longstanding question about the roots of facioscapulohumeral muscular dystrophy or FSHD.
Scientists have discovered the genetic cause of facioscapulohumeral muscular dystrophy (FSHD), the third most common form of muscular dystrophy.