Dystroglycanopathies: Genetic Bases of Muscular Dystrophies Due to Alteration in the O-Glycosylation of α-Dystroglycan

Abstract Congenital muscular dystrophies (CMDs) are inherited, progressive and heterogeneous muscle disorders. A group of CMDs are dystroglycanopathies, also called α-dystroglycanopathies, where there is an abnormal glycosylation of protein α-dystroglycan. Hypoglycosylation of α-DG results in differ...

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Bibliographic Details

Published in:	Journal of Inborn Errors of Metabolism and Screening
Main Authors:	M.A. Cubilla, G.M. Papazoglu, C.G. Asteggiano
Format:	Article
Language:	English
Published:	SciELO 2023-04-01
Subjects:	Congenital muscular dystrophies (CMDs) α-dystroglycan protein (αDG) glycosylation muscle disorders dystroglycanopathies
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942023000100301&lng=en&tlng=en