-
oa Brain Features Distinguishing Congenital Disorders of Glycosylation
- Publisher: Hamad bin Khalifa University Press (HBKU Press)
- Source: QScience Proceedings, Congenital Dystrophies - Neuromuscular Disorders Precision Medicine: Genomics to Care and Cure, Sep 2020, Volume 2020, 9
Abstract
Congenital muscular dystrophies associated with glycosylation defects often impact not only neuromuscular function but may also profoundly affect brain construction and cognitive development. The mutations in congenital disorders glycosylation (CDG) related genes that are associated with muscular dystrophy, for which at least 19 are currently recognized, can also produce distinctive patterns of brain malformation. The spectrum of brain phenotypes and pathogenic mechanisms in these metabolic disorders will be discussed.
© 2020 The Author(s), licensee HBKU Press.