Article
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity.
Brain pathology (Zurich, Switzerland) - 1 Oct 2009
Jimenez-Mallebrera Cecilia, Torelli Silvia, Feng Lucy, Kim Jihee, Godfrey Caroline, Clement Emma, Mein Rachael, Abbs Stephen, Brown Susan C, Campbell Kevin P, Kröger Stephan, Talim Beril, Topaloglu Haluk, Quinlivan Ros, Roper Helen, Childs Anne M, Kinali Maria, Sewry Caroline A, Muntoni Francesco
Abstract excerpt
Hypoglycosylation of alpha-dystroglycan underpins a subgroup of muscular dystrophies ranging from congenital onset of weakness, severe brain malformations and death in the perinatal period to mild weakness in adulthood without brain involvement. Mutations in six genes have been identified in a proportion of patients. POMT1, POMT2 and POMGnT1 encode for glycosyltransferases involved in the mannosylation of...
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