A dystroglycan mutation associated with limb-girdle muscular dystrophy.
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ABSTRACT:
SUBMITTER: Hara Y
PROVIDER: S-EPMC3071687 | biostudies-literature | 2011 Mar
REPOSITORIES: biostudies-literature
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A dystroglycan mutation associated with limb-girdle muscular dystrophy.
Hara Yuji Y Balci-Hayta Burcu B Yoshida-Moriguchi Takako T Kanagawa Motoi M Beltrán-Valero de Bernabé Daniel D Gündeşli Hülya H Willer Tobias T Satz Jakob S JS Crawford Robert W RW Burden Steven J SJ Kunz Stefan S Oldstone Michael B A MB Accardi Alessio A Talim Beril B Muntoni Francesco F Topaloğlu Haluk H Dinçer Pervin P Campbell Kevin P KP
The New England journal of medicine 20110301 10
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 patient. In vitro and in vivo studies showed that the mutation impairs the receptor f ...[more]
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