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Abnormal glycosylation of dystroglycan in human genetic disease

Jane E. Hewitt * 
* Corresponding author
Abstract : The dystroglycanopathies are a group of inherited muscular dystrophies that have a common underlying mechanism, hypoglycosylation of the extracellular receptor α-dystroglycan. Many of these disorders are also associated with defects in the central nervous system and the eye. Defects in α-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.
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Jane E. Hewitt. Abnormal glycosylation of dystroglycan in human genetic disease. Biochimica et Biophysica Acta - Molecular Basis of Disease, Elsevier, 2009, 1792 (9), pp.853. ⟨10.1016/j.bbadis.2009.06.003⟩. ⟨hal-00517932⟩

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