Article
A dystroglycan mutation associated with limb-girdle muscular dystrophy.
The New England journal of medicine - 10 Mar 2011
Hara Yuji, Balci-Hayta Burcu, Yoshida-Moriguchi Takako, Kanagawa Motoi, Beltrán-Valero de Bernabé Daniel, Gündeşli Hülya, Willer Tobias, Satz Jakob S, Crawford Robert W, Burden Steven J, Kunz Stefan, Oldstone Michael B A, Accardi Alessio, Talim Beril, Muntoni Francesco, Topaloğlu Haluk, Dinçer Pervin, Campbell Kevin P
Abstract excerpt
Dystroglycan, which serves as a major extracellular matrix receptor in muscle and the central nervous system, requires extensive O-glycosylation to function. We identified a dystroglycan missense mutation (Thr192→Met) in a woman with limb-girdle muscular dystrophy and cognitive impairment. A mouse model harboring this mutation recapitulates the immunohistochemical and neuromuscular abnormalities observed in the...
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