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Article

Muscular dystrophies due to glycosylation defects

6 Aug 2011

Abstract excerpt

PURPOSE OF REVIEW: Dystroglycanopathies are a common group of diseases characterized by a reduction in α-dystroglycan glycosylation. This review discusses the recent novel discovery of additional dystroglycanopathy variants and progress in dystroglycanopathy animal models. RECENT FINDINGS: Several novel glycosyltransferase genes have been found to be responsible for a dystroglycanopathy phenotype, and in addition...

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PMID: 21825985
DOI: 10.1097/wco.0b013e32834a95e3

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