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- W1668599290 endingPage "322" @default.
- W1668599290 startingPage "291" @default.
- W1668599290 abstract "The muscular dystrophies are a group of neuromuscular disorders associated with muscle weakness and wasting, which in many forms can lead to loss of ambulation and premature death. A number of muscular dystrophies are associated with loss of proteins required for the maintenance of muscle membrane integrity, in particular with proteins that comprise the dystrophin-associated glycoprotein (DAG) complex. Proper glycosylation of O-linked mannose chains on alpha-dystroglycan, a DAG member, is required for the binding of the extracellular matrix to dystroglycan and for proper DAG function. A number of congenital disorders of glycosylation have now been described where alpha-dystroglycan glycosylation is altered and where muscular dystrophy is a predominant phenotype. Glycosylation is also increasingly being appreciated as a genetic modifier of disease phenotypes in many forms of muscular dystrophy and as a target for the development of new therapies. Here we will review the mouse models available for the study of this group of diseases and outline the methodologies required to describe disease phenotypes." @default.
- W1668599290 created "2016-06-24" @default.
- W1668599290 creator A5017703428 @default.
- W1668599290 creator A5083328627 @default.
- W1668599290 date "2010-01-01" @default.
- W1668599290 modified "2023-10-15" @default.
- W1668599290 title "Genetic Defects in Muscular Dystrophy" @default.
- W1668599290 cites W1492569783 @default.
- W1668599290 cites W1494040478 @default.
- W1668599290 cites W1521447037 @default.
- W1668599290 cites W1528293205 @default.
- W1668599290 cites W1532966350 @default.
- W1668599290 cites W1572408887 @default.
- W1668599290 cites W1572833775 @default.
- W1668599290 cites W1963588710 @default.
- W1668599290 cites W1966655531 @default.
- W1668599290 cites W1967387547 @default.
- W1668599290 cites W1967755924 @default.
- W1668599290 cites W1969570221 @default.
- W1668599290 cites W1969688247 @default.
- W1668599290 cites W1969871009 @default.
- W1668599290 cites W1970771850 @default.
- W1668599290 cites W1973193153 @default.
- W1668599290 cites W1974251869 @default.
- W1668599290 cites W1974360702 @default.
- W1668599290 cites W1974745886 @default.
- W1668599290 cites W1977922465 @default.
- W1668599290 cites W1980012361 @default.
- W1668599290 cites W1980154285 @default.
- W1668599290 cites W1980795601 @default.
- W1668599290 cites W1981447099 @default.
- W1668599290 cites W1982402704 @default.
- W1668599290 cites W1982853790 @default.
- W1668599290 cites W1983555241 @default.
- W1668599290 cites W1985659366 @default.
- W1668599290 cites W1986088843 @default.
- W1668599290 cites W1987383823 @default.
- W1668599290 cites W1987980762 @default.
- W1668599290 cites W1988900658 @default.
- W1668599290 cites W1989089322 @default.
- W1668599290 cites W1989881773 @default.
- W1668599290 cites W1990585109 @default.
- W1668599290 cites W1991402168 @default.
- W1668599290 cites W1992408231 @default.
- W1668599290 cites W1992677182 @default.
- W1668599290 cites W1993004031 @default.
- W1668599290 cites W1994619997 @default.
- W1668599290 cites W1996166396 @default.
- W1668599290 cites W1998130967 @default.
- W1668599290 cites W2002469842 @default.
- W1668599290 cites W2003922674 @default.
- W1668599290 cites W2004077739 @default.
- W1668599290 cites W2008115339 @default.
- W1668599290 cites W2008433836 @default.
- W1668599290 cites W2010520021 @default.
- W1668599290 cites W2010689262 @default.
- W1668599290 cites W2012182366 @default.
- W1668599290 cites W2012244545 @default.
- W1668599290 cites W2012973105 @default.
- W1668599290 cites W2013934177 @default.
- W1668599290 cites W2013986688 @default.
- W1668599290 cites W2014087266 @default.
- W1668599290 cites W2018600945 @default.
- W1668599290 cites W2019563312 @default.
- W1668599290 cites W2019606508 @default.
- W1668599290 cites W2021202201 @default.
- W1668599290 cites W2021984762 @default.
- W1668599290 cites W2022209028 @default.
- W1668599290 cites W2024714968 @default.
- W1668599290 cites W2025297482 @default.
- W1668599290 cites W2026728314 @default.
- W1668599290 cites W2028480398 @default.
- W1668599290 cites W2029208162 @default.
- W1668599290 cites W2031068195 @default.
- W1668599290 cites W2032850904 @default.
- W1668599290 cites W2035192492 @default.
- W1668599290 cites W2035401553 @default.
- W1668599290 cites W2036973053 @default.
- W1668599290 cites W2037989540 @default.
- W1668599290 cites W2038761244 @default.
- W1668599290 cites W2039266302 @default.
- W1668599290 cites W2040718007 @default.
- W1668599290 cites W2041361938 @default.
- W1668599290 cites W2042168939 @default.
- W1668599290 cites W2047041038 @default.
- W1668599290 cites W2047136624 @default.
- W1668599290 cites W2047623825 @default.
- W1668599290 cites W2048954221 @default.
- W1668599290 cites W2050029579 @default.
- W1668599290 cites W2050860068 @default.
- W1668599290 cites W2052569682 @default.
- W1668599290 cites W2052709779 @default.
- W1668599290 cites W2054963293 @default.
- W1668599290 cites W2055852440 @default.
- W1668599290 cites W2056602792 @default.
- W1668599290 cites W2057040688 @default.
- W1668599290 cites W2057284014 @default.
- W1668599290 cites W2058382939 @default.