Mechanisms of Disease: congenital muscular dystrophies—glycosylation takes center stage
Paul T Martin
Correspondence Columbus Children's Research Institute, Departments of Pediatrics and Neurology, Ohio State University, 700 Children's Drive, Columbus, OH 43205, USA
Email martinpt@pediatrics.ohio-state.edu
The dystroglycanopathies are a group of muscular dystrophies that are caused by glycosylation defects in
-dystroglycan, an important membrane protein that binds to the extracellular matrix. In this review, Paul Martin summarizes the genetic and clinical features of these disorders, and discusses the possible roles of dystroglycanopathy-associated genes in
-dystroglycan glycosylation.
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