Case report
Open access
Oct 2026
Intrafamilial phenotypic variability in B4GALNT1-related disorders: A sibling case report.
INTRODUCTION Pathogenic variants in β-1,4-N-acetylgalactosaminyltransferase 1 (B4GALNT1) are primarily associated with hereditary spastic paraplegia type 26 (SPG26). In addition, these variants have been implicated in Charcot-Marie-Tooth disease, suggesting a broad phenotypic continuum involving both the central and pe...
Saeka Yoshitake, H. Shimomura, Miki Matsui et al.
· Brain & development (Tokyo.... · 0 citations