| Literature DB >> 19539754 |
Abstract
The dystroglycanopathies are a group of inherited muscular dystrophies that have a common underlying mechanism, hypoglycosylation of the extracellular receptor alpha-dystroglycan. Many of these disorders are also associated with defects in the central nervous system and the eye. Defects in alpha-dystroglycan may also play a role in cancer progression. This review discusses the six dystroglycanopathy genes identified so far, their known or proposed roles in dystroglycan glycosylation and their relevance to human disease, and some of animal models now available for the study of the dystroglycanopathies.Entities:
Mesh：
Substances：
Year: 2009 PMID： 19539754 DOI： 10.1016/j.bbadis.2009.06.003
Source DB: PubMed Journal: Biochim Biophys Acta ISSN： 0006-3002