Articles with "malformations core" as a keyword



Malformations of Core M3 on α-Dystroglycan Are the Leading Cause of Dystroglycanopathies

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Published in 2025 at "Journal of Molecular Neuroscience"

DOI: 10.1007/s12031-025-02320-z

Abstract: Dystroglycanopathies (DGPs) are a group of autosomal recessive neuromuscular diseases with significant clinical and genetic heterogeneity. They originate due to defects in the O-mannosyl glycosylation of α-dystroglycan (α-DG), a prominent linker between the intracellular cytoskeleton… read more here.

Keywords: core; dystroglycan leading; malformations core; leading cause ... See more keywords