Article
Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.
Brain : a journal of neurology - 1 Feb 2009
Ackroyd M R, Skordis L, Kaluarachchi M, Godwin J, Prior S, Fidanboylu M, Piercy R J, Muntoni F, Brown S C
Abstract excerpt
Mutations in fukutin related protein (FKRP) are responsible for a common group of muscular dystrophies ranging from adult onset limb girdle muscular dystrophies to severe congenital forms with associated structural brain involvement, including Muscle Eye Brain disease. A common feature of these disorders is the variable reduction in the glycosylation of skeletal muscle alpha-dystroglycan. In order to gain insight...
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