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Keywords Duchenne muscular dystrophy DMD circ-arRNA LEAPER ADAR RNA editing exon skipping AAV adeno-associated virus muscle degeneration nonhuman primate model NHP model DMD patient Get full text access Log in, subscribe or purchase for full access. References 1. Crisafulli, S. ∙ Sultana, J. ∙ Fontana, A. ... Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis Orphanet J. Rare Dis. 2020; 15:141 2. Mendell, J.R. ∙ Shilling, C. ∙ Leslie, N.D. ...
Introduction Glucose transporter 1 deficiency syndrome (Glut1DS) is a rare inherited neurological disorder initially described by De Vivo et al. in 1991 (1). It is caused by pathogenic variants in the SLC2A1 gene, which lead to reduced expression or dysfunction of glucose transporter protein 1 (Glut1) located on the endothelial cells of blood-brain barrier and astrocytes, reducing glucose transport into the central nervous system (CNS).
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